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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC130007898, LOC130007899
+206 more
Copy number loss
See cases
GPathogenic
ACVR1B, ACVRL1
+136 more
Copy number loss
See cases
GPathogenic
ATG101
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATG101
(R15W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(M21L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(T27M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(F62L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(R66H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(E82A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(R88C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(M98V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(R109H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(S113A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(A130S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(T133M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(I153V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(K167R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(R183Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG101
(R209C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICD1, HDAC7
+212 more
Inversion
not specified
GUncertain significance
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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