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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC130008692, LOC130008693
+316 more
Copy number loss
See cases
GPathogenic
FOXN4
(P491L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(S469L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(G464V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(G464S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(A450T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(A429T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(D422N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(D413N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(P398T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(P388L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(L371V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(A369V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(H362Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(S355P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(G339A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(L328P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(P326S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(E322G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(G318S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(R316C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(D309E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(A291D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(A291T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(R263C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(K257Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(T232M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(E218K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(H187Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(L186R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(R170W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(G164D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(P152L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(P149L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(P136L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(V125M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(S93N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(G63C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(L57P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(G41R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXN4
(Y28C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABTB3, ACACB
+74 more
Copy number loss
not specified
GLikely pathogenic
ABTB3, ACACB
+73 more
Copy number loss
not provided
GPathogenic
ABTB3, ACACB
+23 more
Copy number loss
not provided
GUncertain significance
ABTB3, ACACB
+60 more
Copy number loss
not provided
GPathogenic
UBE3B, FOXN4
+13 more
Copy number gain
not provided
GUncertain significance
ACACB, ALKBH2
+9 more
Copy number gain
See cases
GLikely benign
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
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