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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RABL2A
(A2V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RABL2A
(D4N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RABL2A
(P8L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RABL2A
(S9N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RABL2A
(C26Y)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RABL2A
(M38L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RABL2A
(L56V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RABL2A
(E81D)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
RABL2A
(Y5S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RABL2A
(M14V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RABL2A
(N41S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABL2A
(D137A +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABL2A
(V140M +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABL2A
(N166S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABL2A
(R83Q +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
RABL2A
(D125A +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOXL, ACTR3
+121 more
Copy number loss
not specified
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EPB41L5, ERCC3
+120 more
Copy number gain
2q13q22.3 microduplication syndrome
GPathogenic
ACTR3, BIN1
+51 more
Copy number loss
not specified
GPathogenic
ACTR3, CBWD2
+13 more
Copy number gain
not provided
GUncertain significance
GPR39, IL1F10
+122 more
Copy number gain
not provided
GPathogenic
SLC35F5, RABL2A
Copy number loss
not provided
GUncertain significance
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
FOXD4L1, ACTR3
+27 more
Copy number loss
See cases
GPathogenic
BUB1, PSD4
+53 more
Copy number loss
See cases
GPathogenic
TMEM87B, IL37
+40 more
Copy number loss
See cases
GPathogenic
RGPD8, ACTR3
+63 more
Copy number loss
See cases
GPathogenic
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