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Items: 1 to 100 of 351

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
MPZL3, MSANTD2
+769 more
Copy number gain
See cases
GPathogenic
LOC129390375, LOC129390376
+764 more
Copy number gain
See cases
GPathogenic
POU2F3, PRDM10
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+763 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
LOC130007028, LOC130007029
+608 more
Duplication
Schizophrenia
GLikely pathogenic
ACAD8, ACRV1
+551 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+549 more
Copy number loss
See cases
GPathogenic
OR8G5, PANX3
+519 more
Copy number gain
See cases
GPathogenic
LOC129390377, LOC129390378
+488 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+497 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+444 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+442 more
Copy number loss
See cases
GPathogenic
LOC130007011, LOC130007012
+440 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+439 more
Copy number loss
See cases
GPathogenic
ST14, ST3GAL4
+368 more
Copy number loss
See cases
GPathogenic
LOC130007071, LOC130007072
+363 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+353 more
Copy number loss
See cases
GPathogenic
LOC112061823, LOC112067710
+352 more
Copy number loss
See cases
GPathogenic
TMEM218, TMEM45B
+343 more
Copy number loss
See cases
GPathogenic
LOC130007029, LOC130007030
+312 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+299 more
Copy number loss
See cases
GPathogenic
FOXRED1, GLB1L2
+266 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+265 more
Copy number loss
See cases
GPathogenic
LOC121392949, LOC121392950
+261 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+239 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+239 more
Copy number gain
See cases
GPathogenic
ACAD8, ADAMTS15
+222 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+221 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+220 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+145 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+123 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+99 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+88 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+75 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+65 more
Copy number loss
See cases
GUncertain significance
ACAD8, B3GAT1
+62 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+60 more
Copy number loss
See cases
GLikely pathogenic
ACAD8, B3GAT1
+25 more
Copy number loss
See cases
GPathogenic
ACAD8
Single nucleotide variant
not provided
+1 more
GBenign/Likely benign
ACAD8
(M1T)
Single nucleotide variant
(missense variant +1 more)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely pathogenic
ACAD8
(M1I)
Single nucleotide variant
(missense variant +1 more)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely pathogenic
ACAD8
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
ACAD8
Single nucleotide variant
(synonymous variant)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely benign
ACAD8
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
ACAD8
Single nucleotide variant
(synonymous variant)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely benign
ACAD8
(A11V)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAD8
(L16fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ACAD8
(V22F)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(G27S)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(R29W)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
Single nucleotide variant
(synonymous variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(I35S)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(P37S)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
Single nucleotide variant
(intron variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD8
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD8
Single nucleotide variant
(intron variant)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely benign
ACAD8
Single nucleotide variant
(intron variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
Single nucleotide variant
(intron variant)
Deficiency of isobutyryl-CoA dehydrogenase
GConflicting classifications of pathogenicity
ACAD8
Single nucleotide variant
(intron variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(L41I)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(E44K)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(Q45*)
Single nucleotide variant
(nonsense)
Deficiency of isobutyryl-CoA dehydrogenase
GPathogenic
ACAD8
(R58Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ACAD8
(M60V)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
+1 more
GConflicting classifications of pathogenicity
ACAD8
Single nucleotide variant
(synonymous variant)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely benign
ACAD8
(Q69*)
Single nucleotide variant
(nonsense)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely pathogenic
ACAD8
Single nucleotide variant
(synonymous variant)
Deficiency of isobutyryl-CoA dehydrogenase
+1 more
GConflicting classifications of pathogenicity
ACAD8
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ACAD8
Single nucleotide variant
(intron variant)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely benign
ACAD8
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD8
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD8
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD8
Single nucleotide variant
(intron variant)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely benign
ACAD8
Single nucleotide variant
(intron variant)
Deficiency of isobutyryl-CoA dehydrogenase
+1 more
GBenign
ACAD8
(M78T)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
+1 more
GUncertain significance
ACAD8
(R79G)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD8
(R79Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACAD8
Single nucleotide variant
(synonymous variant)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely benign
ACAD8
(L84V)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(G87R)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(G87E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAD8
(Q92R)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(G96S)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GPathogenic
ACAD8
(G97R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD8
(G97E)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(S98P)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(S98F)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(R102L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACAD8
(R102H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACAD8
(L103R)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(S106P)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(F109S)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(A113T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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