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Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006570, LOC130006571
+474 more
Copy number loss
See cases
GPathogenic
KBTBD3, KDM4D
+528 more
Copy number loss
See cases
GPathogenic
ANKRD42, ANKRD42-DT
+117 more
Copy number gain
See cases
GPathogenic
DDIAS
(R3K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(S30C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(I32M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(V35I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(L104M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(N106D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(Q110R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(T114S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(E134G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(F146L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(I172V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DDIAS
(F190I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(D208E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DDIAS
(D213H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(D221N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(F245L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DDIAS
(L298P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(H326P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(A389S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(N449T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(R460K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(A478D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(C490S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DDIAS
(E518Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(E566D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(F625S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(I657T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(V661I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DDIAS
(I667V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(Y669C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(I689V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(E715K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(Q737R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(R743K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(H744P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(S749F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(S765T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(I777V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DDIAS
(P821S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(I838V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DDIAS
(G879R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(K931R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(K940E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDIAS
(P949S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DDIAS
(P983L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMOTL1, ANGPTL5
+93 more
Copy number loss
not provided
GPathogenic
ANKRD42, CCDC81
+23 more
Copy number loss
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
AMOTL1, ANKRD42
+66 more
Copy number loss
not specified
GPathogenic
AMOTL1, ANKRD42
+72 more
Copy number loss
not specified
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
ANKRD42, CCDC90B
+4 more
Copy number gain
not provided
GUncertain significance
GRM5, HIKESHI
+36 more
Copy number loss
Intellectual disability
GPathogenic
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
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