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Links from Gene

Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIAA0408, SOGA3-KIAA0408
Deletion
(splice donor variant)
Neurodevelopmental disorder with hypotonia and gross motor and speech delay
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(R531L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(G622R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(R186Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(E571D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(D149G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
KIAA0408, SOGA3-KIAA0408
(R677Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(T166I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(V130L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(G303V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(G328R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(L200F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(A172P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(D86N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
KIAA0408, SOGA3-KIAA0408
(N83D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(S532G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(M360L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(P351R)
Single nucleotide variant
(non-coding transcript variant +1 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
KIAA0408, SOGA3-KIAA0408
(I78T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
KIAA0408, SOGA3-KIAA0408
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
KIAA0408, SOGA3-KIAA0408
(G629R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(S61N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(R660C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ARHGAP18, ASF1A
+316 more
Copy number loss
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
KIAA0408, SOGA3-KIAA0408
(M320R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(V563A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(S331P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(E327K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(N682D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(K437N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(N217S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
KIAA0408, SOGA3-KIAA0408
(E417D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
KIAA0408, SOGA3-KIAA0408
(T679I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(R652Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(S90N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(R48W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(S602N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(H646R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(D219G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
KIAA0408, SOGA3-KIAA0408
(E230G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(K76I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(S469L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(I65T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(V415G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(E302G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(P632L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(H500L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIAA0408, SOGA3-KIAA0408
(A644T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
ARHGAP18, C6orf58
+27 more
Copy number loss
not provided
GUncertain significance
AKAP7, ARG1
+400 more
Deletion
Interstitial 6q microdeletion syndrome
GPathogenic
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
RNF146, RSPO3
+3 more
Copy number loss
not provided
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
AKAP7, ARG1
+127 more
Copy number loss
See cases
GLikely pathogenic
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
C6orf58, CENPW
+61 more
Copy number loss
See cases
GUncertain significance
C6orf58, CENPW
+34 more
Copy number loss
See cases
GPathogenic
LOC129389639, LOC129389640
+254 more
Copy number loss
See cases
GPathogenic
AK9, AKAP7
+519 more
Copy number loss
See cases
GPathogenic
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