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Links from Gene

Items: 1 to 100 of 183

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACOX3
(T332S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
ACOX3
(G8D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(A237S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(L431V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(A559P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(R136P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(F518I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(R622H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(R423L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(R585Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(R238W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(H139Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(N463S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(R341W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(M238V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(A2T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM2, ACOX3
+83 more
Deletion
not provided
GPathogenic
ACOX3
(R201G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(K196T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(R175C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(P145S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(P138L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(G140D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(R84W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(R81Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(R679Q +4 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ACOX3
(R655W +4 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ACOX3
(R63H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ACOX3
(H477Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(A464V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(R385H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(D380V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(A307T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(L282V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(S277L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(Q258R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM2, ACOX3
+140 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+120 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+143 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
not specified
GPathogenic
ACOX3
(E87Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACOX3
(R125G +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
MSANTD1, MSX1
+117 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+7 more
Copy number gain
not provided
GUncertain significance
ACOX3, CPZ
+2 more
Copy number loss
not provided
GUncertain significance
ACOX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACOX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACOX3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACOX3
(P617S)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
ACOX3
(D618A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(A36V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP17L24, USP17L25
+132 more
Copy number loss
not provided
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
RNF212, RNF4
+162 more
Copy number gain
4p16.3 microduplication syndrome
GPathogenic
ACOX3
(A10T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ACOX3
(E566K +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ACOX3
(R490W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(S583A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(A509S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(V288M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(R514K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(E158D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(V293I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(I152T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(V602I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ACOX3
(G531S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(M44L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(R308Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(H29Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(R358Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACOX3
(A488T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(R461C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(R201H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(T261I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(S577F +4 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ACOX3
(L430P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(G255S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(A62V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(L232M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(G555R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(S31N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(R389C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(G573S +4 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ACOX3
(R25Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(E151V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(R328W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(R566Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOX3
(M105V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(R147G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(D153N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3
(A270T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOX3, CPZ
+4 more
Copy number gain
not provided
GUncertain significance
ABLIM2, ACOX3
+117 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+117 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+143 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+212 more
Copy number gain
FETAL DEMISE
GPathogenic
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