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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC130007898, LOC130007899
+206 more
Copy number loss
See cases
GPathogenic
AAAS, AMHR2
+85 more
Copy number gain
See cases
GLikely pathogenic
AAAS, AMHR2
+74 more
Copy number loss
See cases
GPathogenic
RARG
(S306L +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
RARG
(V50L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RARG
(V50M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RARG
(N154K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RARG
(R142W +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RARG
(R128H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RARG
(P82L +2 more)
Single nucleotide variant
(missense variant +1 more)
Irido-corneo-trabecular dysgenesis
GLikely benign
AAAS, AMHR2
+114 more
Copy number loss
See cases
GPathogenic
RARG
(A28T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AAAS, AMHR2
+19 more
Copy number gain
not specified
GUncertain significance
AAAS, AMHR2
+15 more
Copy number gain
not provided
GUncertain significance
PCBP2, SP7
+17 more
Copy number loss
not provided
GUncertain significance
AAAS, PCBP2
+13 more
Copy number loss
not provided
GLikely pathogenic
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
ZNF740, ITGB7
+8 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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