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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
LOC130056152, LOC130056153
+503 more
Copy number loss
See cases
GPathogenic
ABCD4, ACYP1
+1421 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1202 more
Copy number gain
See cases
GPathogenic
CEP128, DIO2
+58 more
Copy number gain
See cases
GLikely pathogenic
GTF2A1
(D248V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2A1
(E295D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2A1
(E289D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2A1
(Q199H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2A1
(I197T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2A1
(P158S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2A1
(N131S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CEP128, DIO2
+5 more
Copy number loss
not provided
GUncertain significance
CEP128, DIO2
+5 more
Copy number gain
not specified
GLikely pathogenic
ACOT4, ACOT6
+353 more
Copy number gain
not provided
GPathogenic
OTUB2, PAPOLA
+80 more
Copy number gain
not provided
GLikely pathogenic
ABCD4, ABHD12B
+447 more
Copy number gain
See cases
GPathogenic
CEP128, GTF2A1
+1 more
Copy number gain
not provided
GUncertain significance
ADCK1, AHSA1
+35 more
Copy number loss
not provided
GPathogenic
ABCD4, ABHD12B
+624 more
Copy number gain
See cases
GPathogenic
NUMB, OTUB2
+261 more
Copy number gain
See cases
GPathogenic
ERG28, OR11G2
+635 more
Copy number gain
See cases
GPathogenic
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