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Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATG10, ATP6AP1L
+691 more
Copy number gain
See cases
GPathogenic
ACOT12, ZCCHC9
(E166Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12, ZCCHC9
(P176L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12, ZCCHC9
(A184V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12, ZCCHC9
(K204N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12, ZCCHC9
(G212S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12, ZCCHC9
(S218P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(T554I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACOT12
(I532T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(N511Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(I490V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(I486L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(I486V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACOT12
(Y485H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(P483L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(K462R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(K459R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACOT12
(R457Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(K449E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(K447Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(I442V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACOT12
(I438V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(D433N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(R405C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(T373A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACOT12
(A358S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(R315Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(R313L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(R279H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(R277Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACOT12
(R277P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(E275K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(A274G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(E260A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(P238L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(G237E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(R236W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(D231V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(A213D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(E210Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(P192H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(L190V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(Q184E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(S162N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACOT12
(R143K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(V135M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(P115S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(A113P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(L103R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(Q94K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(M85T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(R79K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(S50F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12
(H46Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT12, ADGRV1
+98 more
Copy number gain
not provided
GPathogenic
RASGRF2, SSBP2
+9 more
Copy number gain
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
FAM151B, MSH3
+9 more
Copy number gain
not provided
GUncertain significance
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ACOT12, ANKRD34B
+9 more
Copy number gain
See cases
GUncertain significance
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