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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130003254, LOC130003255
+1221 more
Copy number gain
See cases
GBenign
ANKRD30A, CCDC7
+119 more
Copy number gain
See cases
GPathogenic
LOC130003694, LOC130003695
+4 more
Copy number loss
See cases
GBenign
ZNF25
(Y402F +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZNF25
(Y362H +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZNF25
(Y334C +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZNF25
(K323N +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZNF25
(R333Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZNF25
(H299Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZNF25
(F231S +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZNF25
(K177E +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZNF25
(Y173C +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZNF25
(R40W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZNF25
(K23E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ZNF25
(W26R +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ZNF25
(Q5R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
MTG1, NPS
+679 more
Copy number gain
Distal trisomy 10q
GPathogenic
A1CF, ABCC2
+670 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
MTRNR2L7, ZNF248
+3 more
Copy number gain
not specified
GUncertain significance
ACBD7, ABI1
+180 more
Copy number gain
Mosaic supernumerary isodicentric chromosome 10
Gnot provided
ZNF25
Copy number loss
not provided
GUncertain significance
ZNF37A, ZNF248
+2 more
Copy number gain
not provided
GLikely benign
ZNF37A, ZNF25
+4 more
Copy number gain
not provided
GLikely benign
ALOX5, ANKRD30A
+24 more
Copy number gain
not provided
GLikely pathogenic
MTRNR2L7, ANKRD30A
+4 more
Copy number gain
not provided
GUncertain significance
ABI1, ACBD5
+205 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
NFKB2, NHLRC2
+722 more
Copy number gain
See cases
GPathogenic
A1CF, ANXA8L1
+723 more
Copy number gain
See cases
GPathogenic
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