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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
AFG1L, AK9
+472 more
Copy number loss
See cases
GPathogenic
AK9, AKAP7
+519 more
Copy number loss
See cases
GPathogenic
ARHGAP18, ASF1A
+316 more
Copy number loss
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
LOC129389639, LOC129389640
+254 more
Copy number loss
See cases
GPathogenic
AKAP7, ARG1
+400 more
Deletion
Interstitial 6q microdeletion syndrome
GPathogenic
LOC129997072, LOC129997073
+147 more
Copy number gain
See cases
GPathogenic
CLVS2, FABP7
+91 more
Copy number loss
See cases
GPathogenic
CLVS2, FABP7
+75 more
Copy number loss
See cases
GUncertain significance
CLVS2
(S9C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLVS2
(R48C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLVS2
(M85L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLVS2
(A139G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLVS2
(F169L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLVS2
(L180M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLVS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLVS2
(T212S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLVS2
(R215W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLVS2
(H241N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLVS2
(M283T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLVS2
(V288I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLVS2
(E316G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AK9, AMD1
+70 more
Copy number loss
not provided
GPathogenic
ABRACL, ADAT2
+155 more
Copy number gain
not specified
GPathogenic
AKAP7, AMD1
+87 more
Copy number gain
not specified
GLikely pathogenic
AHI1, AKAP7
+69 more
Copy number loss
not provided
GPathogenic
ASF1A, CALHM4
+39 more
Copy number loss
6q terminal deletion syndrome
GLikely pathogenic
CLVS2, FABP7
+16 more
Copy number loss
not provided
Gnot provided
CLVS2, FABP7
+8 more
Copy number gain
not provided
GUncertain significance
ARHGAP18, C6orf58
+27 more
Copy number loss
not provided
GUncertain significance
C6orf58, CENPW
+21 more
Copy number loss
not specified
GPathogenic
ASF1A, CEP85L
+18 more
Copy number gain
not provided
GLikely pathogenic
ASF1A, CALHM4
+31 more
Deletion
Seizure
+1 more
GPathogenic
CLVS2
Copy number loss
not provided
GUncertain significance
EPB41L2, FABP7
+73 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
AKAP7, ARHGAP18
+32 more
Copy number loss
See cases
GPathogenic
TRDN, CLVS2
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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