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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
FKBP11
(I70T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP11
(I156V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP11
(V51G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP11
(R145Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP11
(A130V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP11
(R20W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP11
(D102A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FKBP11
(G88S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FKBP11
(L68F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FKBP11
(I62R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP11
(E32Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP11
(A20P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FKBP11
(S19R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARF3, CCDC65
+3 more
Deletion
not provided
GPathogenic
ADCY6, ARF3
+10 more
Duplication
Kabuki syndrome
GUncertain significance
ARF3, CCDC65
+8 more
Duplication
Kabuki syndrome
GUncertain significance
ABCD2, ADAMTS20
+72 more
Copy number gain
not specified
GPathogenic
PPHLN1, PRICKLE1
+66 more
Copy number gain
See cases
GLikely pathogenic
ADCY6, ARF3
+32 more
Copy number gain
not provided
GUncertain significance
ADCY6, ARF3
+13 more
Copy number loss
Kabuki syndrome 1
GPathogenic
CCDC65, WNT10B
+14 more
Copy number gain
not provided
GUncertain significance
BICD1, HDAC7
+212 more
Inversion
not specified
GUncertain significance
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ABCD2, ADAMTS20
+92 more
Copy number gain
See cases
GPathogenic
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