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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
ABCA10, ABCA5
+85 more
Copy number loss
See cases
GPathogenic
LOC129390924, LOC129390925
+59 more
Copy number loss
See cases
GPathogenic
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
MAP2K6
(T28A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP2K6
(I56V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP2K6
(V11A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP2K6
(I144V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP2K6
(L186V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP2K6
(L190I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP2K6
(R198Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP2K6
(P218S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP2K6
Copy number loss
not provided
GUncertain significance
AANAT, AATK
+226 more
Copy number gain
not provided
GPathogenic
LLGL2, MAP2K6
+119 more
Copy number gain
not provided
GLikely pathogenic
AANAT, AATK
+222 more
Copy number gain
not provided
GPathogenic
AANAT, AATK
+202 more
Copy number gain
See cases
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
ABCA10, ABCA5
+18 more
Copy number gain
See cases
GUncertain significance
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