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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ALKBH6, ANKRD27
+459 more
Copy number loss
See cases
GPathogenic
ALKBH6, ANKRD27
+439 more
Copy number loss
See cases
GPathogenic
RBM42
(P11L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(V72E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(M113V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(D134E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(R139Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(R158H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM42
(L173V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM42
(G150S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(R181S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(R181C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(P182T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(R183Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(P188T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(G211R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(A225V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(A255V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(A264V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(V239M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(P295L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(R299Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(L309V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(L315M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(G360S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(A371T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM42
(V398I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH6, APLP1
+63 more
Copy number loss
not provided
GPathogenic
SLC7A9, SNRPA
+215 more
Copy number gain
not specified
GPathogenic
ALKBH6, APLP1
+72 more
Deletion
not provided
GPathogenic
ALKBH6, APLP1
+83 more
Duplication
Hereditary spastic paraplegia 75
GUncertain significance
ALKBH6, APLP1
+54 more
Deletion
Brugada syndrome 5
GUncertain significance
ALKBH6, APLP1
+28 more
Copy number gain
not provided
GUncertain significance
ACP7, ACTMAP
+255 more
Copy number gain
Specific learning disability
GPathogenic
MAG, FXYD5
+33 more
Deletion
Dystonic disorder
GPathogenic
ATP4A, CD22
+24 more
Copy number loss
not provided
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
ARHGAP33, ATP4A
+44 more
Copy number loss
not provided
GPathogenic
ALKBH6, APLP1
+79 more
Copy number loss
Generalized epilepsy with febrile seizures plus, type 1
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ANKRD27, ATP4A
+58 more
Copy number gain
See cases
GPathogenic
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