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Links from Gene

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KPNA6
(C253Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KPNA6
(P381R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KPNA6
(M4V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KPNA6
(D117N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KPNA6
(A61S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KPNA6
(I375V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
KPNA6
(K424N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KPNA6
(S510I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KPNA6
(V463I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KPNA6
(M85I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KPNA6
(D507N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM234, TMEM39B
+9 more
Copy number gain
not specified
GUncertain significance
GPR3, PTPRU
+66 more
Copy number gain
not specified
GUncertain significance
TMEM54, RBBP4
+51 more
Copy number gain
not provided
GLikely pathogenic
ADGRB2, BSDC1
+19 more
Copy number gain
not provided
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
FAM229A, DCDC2B
+13 more
Copy number gain
not provided
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
LOC129929998, LOC129929999
+293 more
Copy number loss
See cases
GPathogenic
A3GALT2, ADGRB2
+214 more
Copy number loss
See cases
GPathogenic
LOC129930033, LOC129930034
+117 more
Copy number gain
See cases
GPathogenic
ADGRB2, AHDC1
+348 more
Copy number gain
See cases
GPathogenic
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