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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
ABTB3, ACACB
+712 more
Copy number gain
See cases
GPathogenic
USP44
(K686Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(Y671F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(M600L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(I534V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(K533R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(G532R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
Single nucleotide variant
(synonymous variant +1 more)
USP44-related disorder
GLikely benign
USP44
Single nucleotide variant
(synonymous variant +1 more)
USP44-related disorder
GLikely benign
USP44
(L457F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(L381V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(Q377R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(M366I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(G363S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
USP44
(G359E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(G359R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(G358D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(R348G)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
USP44
(L291fs)
Indel
(frameshift variant +1 more)
Intellectual disability, moderate
GUncertain significance
USP44
(C282F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(S260P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(D259Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(L246P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
USP44
(T236M)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP44
(Q221R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(L197S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(R194Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USP44
(V185I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(Q176P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
USP44
(T148S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(R121Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(R121W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(S107N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(K96N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(D84G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(E71D)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
USP44
(L70F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(G50E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(S45F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
(E36K)
Single nucleotide variant
(missense variant +1 more)
USP44-related disorder
GBenign
USP44
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
USP44
(T6M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP44
Single nucleotide variant
(synonymous variant +1 more)
USP44-related disorder
GLikely benign
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
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