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Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996876, LOC129996877
+1449 more
Copy number gain
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
C6orf58, CENPW
+61 more
Copy number loss
See cases
GUncertain significance
C6orf58, CENPW
+34 more
Copy number loss
See cases
GPathogenic
AKAP7, ARG1
+127 more
Copy number loss
See cases
GLikely pathogenic
THEMIS
Copy number gain
See cases
GLikely benign
THEMIS
(A631E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(D582N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(N446H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(T496S +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
THEMIS
(V555G +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(V555I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(R626H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(S549F +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
THEMIS
(D427E +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(T481M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(P523L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(P456L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(A488V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(R482L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(E465K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(L465H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(D368A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(V306M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(N423S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(A424V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(K322M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(K383E +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(V257I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(K353E +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
THEMIS
(A275T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(R177G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(L232V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(S105F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(V226I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(R90H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
(R243C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THEMIS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
THEMIS
(K111E +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THEMIS
(T100K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THEMIS
(N160S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THEMIS
(E144K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THEMIS
(L132V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THEMIS
(H64Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THEMIS
(H132R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THEMIS
(M123T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THEMIS
(I109T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THEMIS
(V106L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THEMIS
(L50R +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
THEMIS
(P79L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THEMIS
(M1I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
THEMIS
(M36T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
THEMIS
(S32F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THEMIS
(H10Y)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
THEMIS
(V9F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
THEMIS
(F8L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARHGAP18, C6orf58
+19 more
Copy number loss
not specified
GUncertain significance
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
PTPRK, THEMIS
Copy number gain
not provided
GUncertain significance
C6orf58, THEMIS
Copy number loss
not provided
GUncertain significance
ARHGAP18, C6orf58
+27 more
Copy number loss
not provided
GUncertain significance
C6orf58, CENPW
+7 more
Copy number loss
not specified
GUncertain significance
C6orf58, CENPW
+21 more
Copy number loss
not specified
GPathogenic
C6orf58, CENPW
+17 more
Copy number loss
not provided
GPathogenic
RSPO3, ECHDC1
+7 more
Copy number loss
not provided
GUncertain significance
EPB41L2, FABP7
+73 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
PTPRK, THEMIS
Copy number loss
See cases
GUncertain significance
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
C6orf58, PTPRK
+6 more
Copy number loss
See cases
GLikely benign
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