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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
AAK1, ACTG2
+768 more
Copy number gain
See cases
GPathogenic
ADD2, ANKRD53
+48 more
Copy number gain
See cases
GUncertain significance
PAIP2B
(D66E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAIP2B
(M35I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAIP2B
(S22R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAIP2B
(G20E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAIP2B
(P11L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAIP2B
(S10P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTG2, ALMS1
+60 more
Copy number loss
not specified
GLikely pathogenic
AAK1, ACTG2
+72 more
Duplication
not provided
GUncertain significance
ACTG2, ALMS1
+55 more
Deletion
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
GPathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ANKRD53, ATP6V1B1
+5 more
Copy number gain
not provided
GUncertain significance
DYSF, ZNF638
+1 more
Copy number gain
not provided
GUncertain significance
AAK1, ACTG2
+127 more
Duplication
not provided
GPathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
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