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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937605, LOC129937606
+484 more
Copy number gain
See cases
GUncertain significance
A4GNT, ACAD11
+282 more
Copy number loss
See cases
GPathogenic
A4GNT, ACAD11
+345 more
Copy number loss
See cases
GPathogenic
A4GNT, ACAD11
+212 more
Copy number loss
See cases
GPathogenic
A4GNT, AMOTL2
+301 more
Copy number loss
See cases
GPathogenic
AMOTL2, ANAPC13
+102 more
Copy number loss
See cases
GPathogenic
LOC129937630, LOC129937631
+320 more
Copy number loss
See cases
GPathogenic
A4GNT, AMOTL2
+167 more
Copy number loss
See cases
GPathogenic
A4GNT, ARMC8
+221 more
Copy number loss
See cases
GPathogenic
IL20RB, IL20RB-AS1
+26 more
Copy number loss
Intellectual disability, autosomal dominant 47
GLikely pathogenic
NCK1-DT, SLC35G2
(V11I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(M23T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(E40K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(Y45H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(N52Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(K55R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(K63T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(P77S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(M83V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(Q89K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(L166F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(I188V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(A224V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(I241M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(L249F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35G2, NCK1-DT
(A338G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(H352N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(I355T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(V365M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCK1-DT, SLC35G2
(D402N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC35G2, NCK1-DT
(P410L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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