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Items: 31

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
PKIB
(V11A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PKIB
(G48R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PKIB
(S43A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PKIB
(D44G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PKIB
(E50K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PKIB
(L59V +1 more)
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
PKIB, SERINC1
Copy number loss
not provided
GLikely benign
ASF1A, CALHM4
+31 more
Deletion
Seizure
+1 more
GPathogenic
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
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