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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACCS, ACCSL
+225 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+265 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+259 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+255 more
Copy number gain
See cases
GLikely pathogenic
AMBRA1, ARHGAP1
+13 more
Copy number gain
See cases
GUncertain significance
AMBRA1, ARHGAP1
+8 more
Deletion
not provided
GUncertain significance
HARBI1
(M344I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(E342D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(R338H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(E335K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(E330G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(H328Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(M318V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HARBI1
(R272H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(R272C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(R265Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(R248C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(R231Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(S220G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(P194S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(V189M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(I182L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(H152R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(I128V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HARBI1
(S127F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(I93V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(G90A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(L57V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(G54R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(M38T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(D28G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HARBI1
(P4Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP1, ATG13
+6 more
Copy number gain
not provided
GUncertain significance
AMBRA1, ARHGAP1
+5 more
Copy number gain
not provided
GUncertain significance
ACP2, AGBL2
+40 more
Deletion
Leukocyte adhesion deficiency type II
GPathogenic
ACP2, ACCS
+216 more
Copy number gain
See cases
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
AMBRA1, ARHGAP1
+2 more
Copy number loss
not specified
GUncertain significance
AMBRA1, ARHGAP1
+8 more
Copy number loss
not specified
GUncertain significance
AMBRA1, ARHGAP1
+8 more
Duplication
not provided
GUncertain significance
ACCS, ACCSL
+33 more
Copy number loss
not provided
GPathogenic
ZNF408, AMBRA1
+4 more
Duplication
not provided
GUncertain significance
ARHGAP1, ATG13
+40 more
Duplication
Leukocyte adhesion deficiency type II
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
ARHGAP1, ATG13
+4 more
Copy number gain
not provided
GUncertain significance
AMBRA1, ARHGAP1
+8 more
Duplication
not provided
GUncertain significance
AMBRA1, ARHGAP1
+9 more
Copy number gain
not provided
GUncertain significance
AMBRA1, ARHGAP1
+4 more
Copy number gain
not provided
GUncertain significance
DGKZ, HARBI1
+4 more
Duplication
Short philtrum
+4 more
GUncertain significance
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
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