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Links from Gene

Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLEU2, TRIM13
(Q111H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEU2, TRIM13
(F309L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEU2, TRIM13
(E337G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEU2, KCNRG
+1 more
(R117Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLEU2, KCNRG
+1 more
(V110G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLEU2, TRIM13
(D295G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEU2, TRIM13
(R160H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEU2, TRIM13
(C117G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEU2, TRIM13
(P52A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALG11, ARL11
+29 more
Copy number loss
not provided
GUncertain significance
DLEU2, KCNRG
+1 more
(R30C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLEU2, KCNRG
(L214V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLEU2, KCNRG
(I197M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLEU2, KCNRG
+1 more
(L163S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLEU2, KCNRG
+1 more
(R92C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLEU2, KCNRG
+1 more
(L9V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
AKAP11, ALG11
+117 more
Copy number gain
not specified
GPathogenic
ALG11, ARL11
+77 more
Copy number loss
not specified
GPathogenic
ABCC4, ACOD1
+102 more
Copy number loss
not specified
GPathogenic
ITM2B, KBTBD6
+119 more
Copy number loss
not provided
GPathogenic
DLEU2, TRIM13
(D180H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEU2, TRIM13
(E190D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEU2, KCNRG
(L219F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLEU2, KCNRG
(V250E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLEU2, TRIM13
(I85T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEU2, TRIM13
(L102F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEU2, KCNRG
+1 more
(M161L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLEU2, KCNRG
(R202Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLEU2, KCNRG
+1 more
(D78G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLEU2, KCNRG
+1 more
(R38K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLEU2, TRIM13
(A214V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEU2, KCNRG
+1 more
(L70V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLEU2, TRIM13
(S355T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DLEU2, KCNRG
+1 more
(M44T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLEU2, KCNRG
+1 more
(I15T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLEU2, TRIM13
(M113T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEU2, KCNRG
+1 more
(R139G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DLEU2, TRIM13
(A274T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DLEU2, KCNRG
(E221A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
B3GLCT, HS6ST3
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
ALG11, ARL11
+64 more
Copy number loss
not specified
GPathogenic
KLHL1, LPAR6
+120 more
Copy number loss
not specified
GPathogenic
SPART, SPRYD7
+147 more
Copy number loss
not specified
GPathogenic
AKAP11, ALG11
+127 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not specified
GPathogenic
VPS36, VWA8
+329 more
Copy number gain
not specified
GPathogenic
GTF2F2, PRR20D
+175 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
ATP7B, WDFY2
+70 more
Copy number loss
not provided
GPathogenic
DACH1, IRS2
+332 more
Copy number gain
See cases
GPathogenic
CENPJ, CHAMP1
+332 more
Copy number gain
See cases
GPathogenic
ALG11, ARL11
+54 more
Copy number gain
not provided
GLikely pathogenic
ARL11, DLEU2
+6 more
Copy number gain
not provided
GUncertain significance
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
DLEU1, DLEU2
+5 more
Copy number gain
not provided
GUncertain significance
DLEU2, DLEU7
+45 more
Copy number loss
not provided
GUncertain significance
ALG11, ARL11
+50 more
Deletion
Intellectual disability
GLikely pathogenic
NUDT15, NUFIP1
+211 more
Copy number gain
not provided
GPathogenic
ARL11, CAB39L
+19 more
Copy number gain
not provided
GUncertain significance
ACOD1, ALG11
+530 more
Deletion
Chromosome 13q14 deletion syndrome
GPathogenic
ARL11, CAB39L
+27 more
Copy number loss
See cases
GPathogenic
FGF9, FLT1
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
CRYL1, CSNK1A1L
+332 more
Copy number gain
See cases
GPathogenic
GTF2F2, LINC00567
+332 more
Copy number gain
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
ARL11, CAB39L
+50 more
Copy number gain
See cases
GUncertain significance
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
ALG11, ARL11
+266 more
Copy number loss
See cases
GPathogenic
LOC126861769, LOC126861770
+437 more
Copy number loss
See cases
GPathogenic
LOC130009665, LOC130009659
+612 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009611, LOC130009612
+938 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
OBI1-AS1, OLFM4
+513 more
Copy number loss
See cases
GPathogenic
ARL11, CAB39L
+101 more
Copy number loss
See cases
GPathogenic
LOC130009942, LOC130009943
+733 more
Copy number loss
See cases
GPathogenic
LOC130009600, LOC130009601
+735 more
Copy number gain
See cases
GPathogenic
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
ALG11, ARL11
+729 more
Copy number gain
See cases
GPathogenic
LINC00400, LINC02333
+604 more
Copy number loss
See cases
GPathogenic
ARHGEF7-AS1, ARHGEF7-AS2
+1268 more
Copy number gain
See cases
GPathogenic
LOC130009917, LOC130009918
+1288 more
Copy number gain
See cases
GPathogenic
LOC130009687, LOC130009688
+1557 more
Copy number gain
See cases
GPathogenic
LOC130009567, LOC130009568
+1005 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
LOC126861771, LOC126861772
+215 more
Copy number loss
See cases
GPathogenic
LOC130009620, LOC130009621
+781 more
Copy number loss
See cases
GPathogenic
LOC130009879, LOC130009880
+657 more
Copy number loss
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
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