U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAP1
(E699K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(I63T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(G402V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(A54T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(V479D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO39, FGF11
+209 more
Duplication
not provided
GUncertain significance
ACADVL, ACAP1
+23 more
Deletion
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACAP1
(R147C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(R118G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(P676A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(E624K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(D597E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(A58D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1, LOC130060134
(P571S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1, LOC130060134
(S563T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(R551W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(R50C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(F454L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(V407E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(G405R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(G402A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(R367C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(S358C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHF23, PLSCR3
+32 more
Copy number loss
not specified
GPathogenic
ABR, ACADVL
+329 more
Copy number gain
not specified
GPathogenic
ACAP1
(L5V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(V113I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(V404L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAT2, SCARF1
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
ACAP1
(G221A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(G630R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(E254K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(M76I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACADVL, ACAP1
+48 more
Copy number loss
not provided
GPathogenic
ACAP1
(A418D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACADVL, ACAP1
+40 more
Deletion
Common variable immunodeficiency
GUncertain significance
ALOX15B, ALOXE3
+66 more
Deletion
Li-Fraumeni syndrome
GPathogenic
ACADVL, ACAP1
+69 more
Deletion
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL, ACAP1
+62 more
Duplication
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GUncertain significance
ACAP1
(P550S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(T2S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(H89Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(T2A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(L38V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(R16H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(V407M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(V407A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACAP1
(R194H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(D237N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(A656S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(H581Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(R125L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(E682Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(T461I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(N278S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(G445S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(S211R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1
(G604D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP1, ALOX12B
+65 more
Copy number loss
not specified
GPathogenic
ACADVL, ACAP1
+64 more
Copy number loss
not specified
GPathogenic
GPS2, NEURL4
+16 more
Copy number loss
not provided
GPathogenic
TMEM102, TNFSF12
+74 more
Copy number gain
not provided
GPathogenic
DNAH2, DVL2
+81 more
Duplication
Common variable immunodeficiency
+1 more
GUncertain significance
ACADVL, ACAP1
+27 more
Copy number loss
not provided
GPathogenic
ACADVL, ACAP1
+28 more
Copy number gain
not provided
GUncertain significance
ABR, ACADVL
+240 more
Copy number gain
not provided
GPathogenic
ACADVL, ACAP1
+25 more
Duplication
Bilateral conductive hearing impairment
+3 more
GLikely pathogenic
ACAP1, EIF5A
+4 more
Duplication
not provided
GUncertain significance
ACADVL, ACAP1
+75 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABR, ACADVL
+250 more
Copy number gain
See cases
GPathogenic
ACADVL, ACAP1
+26 more
Copy number loss
See cases
GLikely pathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+962 more
Copy number gain
See cases
GPathogenic
LOC130059883, LOC130059884
+922 more
Copy number gain
See cases
GPathogenic
ACADVL, ACAP1
+182 more
Copy number gain
See cases
GLikely pathogenic
TRARG1, TRPV1
+651 more
Copy number loss
See cases
GPathogenic
LOC130059937, LOC130059938
+604 more
Copy number gain
See cases
GPathogenic
ACADVL, ACAP1
+461 more
Copy number gain
See cases
GPathogenic
ACADVL, ACAP1
+106 more
Copy number gain
See cases
GUncertain significance
ACADVL, ACAP1
+72 more
Copy number loss
See cases
GPathogenic
SPEM3, TEKT1
+229 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination