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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
SF3A3
(H342R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SF3A3
(G282R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SF3A3
(K258N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SF3A3
(T185N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SF3A3
(T233R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SF3A3
(E169D +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SF3A3
(D144G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SF3A3
(Y86C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SF3A3
(R117Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SF3A3
(I102L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SF3A3
(N73S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SF3A3
(K64E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SF3A3
(R58T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SF3A3
(N38S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SF3A3
(T3I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADPRS, AGO1
+37 more
Copy number loss
not specified
GUncertain significance
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
NKAIN1, PLA2G2E
+783 more
Copy number gain
Global developmental delay
+1 more
GUncertain significance
GJB3, PIK3R3
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
AIRIM, C1orf122
+16 more
Copy number gain
See cases
GLikely benign
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
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