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Items: 1 to 100 of 1028

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
ACADM, ACOT11
+570 more
Copy number gain
See cases
GPathogenic
ACOT11, AK4
+422 more
Copy number gain
See cases
GLikely pathogenic
CPT2
Single nucleotide variant
not provided
GLikely benign
CPT2
Single nucleotide variant
not provided
GBenign
CPT2
Single nucleotide variant
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2
Single nucleotide variant
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2
Single nucleotide variant
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2
Single nucleotide variant
Carnitine palmitoyltransferase II deficiency
+4 more
GUncertain significance
CPT2
Single nucleotide variant
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2
Single nucleotide variant
not provided
+1 more
GLikely benign
CPT2
Single nucleotide variant
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2
Single nucleotide variant
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(5 prime UTR variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(5 prime UTR variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CPT2, LOC129930561
(P3S)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GLikely benign
CPT2, LOC129930561
(R8fs)
Duplication
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
GPathogenic
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(A9V)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
(W10*)
Insertion
(nonsense)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+3 more
GPathogenic
CPT2, LOC129930561
(W10*)
Single nucleotide variant
(nonsense)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GLikely pathogenic
CPT2, LOC129930561
(W10S)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
(W10C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
LOC129930561, CPT2
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(R12W)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
(R12Q)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
(G13fs)
Deletion
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
+1 more
GPathogenic/Likely pathogenic
CPT2, LOC129930561
(V16fs)
Duplication
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
GPathogenic
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(S22fs)
Duplication
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
GPathogenic
CPT2, LOC129930561
(G13del)
Deletion
(inframe_deletion)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2, LOC129930561
(G13fs)
Deletion
(frameshift variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
GLikely pathogenic
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(P14S)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
LOC129930561, CPT2
(V16F)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
(G17C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPT2, LOC129930561
(L25fs)
Duplication
(frameshift variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+2 more
GLikely pathogenic
CPT2, LOC129930561
(P18L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+5 more
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(G19E)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(S22fs)
Duplication
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GPathogenic
CPT2, LOC129930561
(A20V)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(P21H)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GUncertain significance
CPT2, LOC129930561
(S22C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CPT2, LOC129930561
(S22I)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
(S22N)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+4 more
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
LOC129930561, CPT2
(R23G)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
(L25fs)
Deletion
(frameshift variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
GLikely pathogenic
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(L25P)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(S26fs)
Deletion
(frameshift variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GPathogenic/Likely pathogenic
CPT2, LOC129930561
(G28R)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
+1 more
GConflicting classifications of pathogenicity
CPT2, LOC129930561
(S29A)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
(S29C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(G30R)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
(G30R)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
(G30W)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
(G30E)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(P31S)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(G32fs)
Deletion
(frameshift variant)
Carnitine palmitoyl transferase II deficiency, myopathic form
+2 more
GLikely pathogenic
CPT2, LOC129930561
(Q33fs)
Deletion
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GPathogenic
CPT2, LOC129930561
(Q33H)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+4 more
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(Y34*)
Single nucleotide variant
(nonsense)
Carnitine palmitoyl transferase II deficiency, severe infantile form
GLikely pathogenic
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+4 more
GLikely benign
CPT2, LOC129930561
(Q36fs)
Duplication
(frameshift variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
GLikely pathogenic
CPT2, LOC129930561
(S38fs)
Microsatellite
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GPathogenic/Likely pathogenic
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(R37C)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(P41L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GUncertain significance
CPT2, LOC129930561
(P41H)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
GUncertain significance
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
Single nucleotide variant
(synonymous variant)
Carnitine palmitoyltransferase II deficiency
GLikely benign
CPT2, LOC129930561
(H44Y)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+6 more
GUncertain significance
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