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Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121466733, LOC121468000
+2048 more
Copy number loss
See cases
GPathogenic
LOC130010147, LOC130010148
+2049 more
Copy number gain
See cases
GPathogenic
LOC130009360, LOC130009361
+2047 more
Copy number gain
See cases
GPathogenic
LOC130009909, LOC130009910
+2044 more
Copy number gain
See cases
GPathogenic
LINC00333, LINC00343
+2045 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2040 more
Copy number gain
See cases
GPathogenic
LOC121838573, LOC121838574
+2028 more
Copy number gain
See cases
GPathogenic
URAD, USP12
+2024 more
Copy number gain
See cases
GPathogenic
LINC00462, LINC00463
+2021 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ACOD1, AKAP11
+1004 more
Copy number gain
See cases
GPathogenic
AKAP11, ALG11
+780 more
Copy number loss
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
LINC00434, LINC00437
+735 more
Copy number gain
See cases
GPathogenic
DNAJC15, EBPL
+938 more
Copy number gain
See cases
GPathogenic
SIAH3, SLAIN1
+1557 more
Copy number gain
See cases
GPathogenic
AKAP11, ALG11
+604 more
Copy number loss
See cases
GPathogenic
AKAP11, ALG11
+612 more
Copy number loss
See cases
GPathogenic
AKAP11, ARL11
+437 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
LOC130009906, LOC130009907
+733 more
Copy number loss
See cases
GPathogenic
LINC00561, LINC00562
+729 more
Copy number gain
See cases
GPathogenic
ARL11, CAB39L
+215 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+1288 more
Copy number gain
See cases
GPathogenic
LINC00550, LINC00552
+1268 more
Copy number gain
See cases
GPathogenic
ACOD1, ALG11
+657 more
Copy number loss
See cases
GPathogenic
ACOD1, ALG11
+530 more
Deletion
Chromosome 13q14 deletion syndrome
GPathogenic
ACOD1, ALG11
+513 more
Copy number loss
See cases
GPathogenic
LOC124900143, LOC124900144
+266 more
Copy number loss
See cases
GPathogenic
ARL11, CAB39L
+101 more
Copy number loss
See cases
GPathogenic
ARL11, CAB39L
+50 more
Copy number gain
See cases
GUncertain significance
SETDB2, SETDB2-PHF11
(I50F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(P75L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SETDB2, SETDB2-PHF11
(S123F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SETDB2, SETDB2-PHF11
(P164T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(V190M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SETDB2, SETDB2-PHF11
(N191S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL11, EBPL
+13 more
Copy number gain
See cases
GLikely benign
SETDB2, SETDB2-PHF11
(V244L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(E251D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(F289L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(R324G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(L324S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(H363R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(K408I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SETDB2, SETDB2-PHF11
(G404R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SETDB2, SETDB2-PHF11
(S465R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(K504E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(S489T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(S501C +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(K522E +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(T598A +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SETDB2, SETDB2-PHF11
(N647D +4 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
SETDB2-PHF11, SETDB2
Single nucleotide variant
(intron variant)
not provided
GBenign
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
AKAP11, ALG11
+119 more
Copy number loss
not provided
GPathogenic
ARL11, CAB39L
+4 more
Copy number gain
not provided
GUncertain significance
CCDC169-SOHLH2, CCDC70
+332 more
Copy number gain
not provided
GPathogenic
PCID2, PCOTH
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
CAB39L, SETDB2
Copy number loss
not specified
GUncertain significance
ALG11, ARL11
+64 more
Copy number loss
not specified
GPathogenic
ACOD1, AKAP11
+120 more
Copy number loss
not specified
GPathogenic
CLN5, CNMD
+147 more
Copy number loss
not specified
GPathogenic
MIR16-1, MLNR
+127 more
Copy number loss
not specified
GPathogenic
ABCC4, DNAJC15
+332 more
Copy number gain
not specified
GPathogenic
ZMYM5, SPATA13
+329 more
Copy number gain
not specified
GPathogenic
DCT, DGKH
+175 more
Copy number gain
not provided
GPathogenic
ARGLU1, FBXL3
+332 more
Copy number gain
not provided
GPathogenic
ALG11, ARL11
+70 more
Copy number loss
not provided
GPathogenic
MRPL57, MRPS31
+332 more
Copy number gain
See cases
GPathogenic
DGKH, DHRS12
+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
DLEU2, DLEU7
+45 more
Copy number loss
not provided
GUncertain significance
ALG11, ARL11
+50 more
Deletion
Intellectual disability
GLikely pathogenic
AKAP11, ALG11
+211 more
Copy number gain
not provided
GPathogenic
ARL11, CAB39L
+19 more
Copy number gain
not provided
GUncertain significance
CDADC1, MLNR
+3 more
Copy number gain
not provided
GUncertain significance
ARL11, CAB39L
+4 more
Copy number gain
not provided
GUncertain significance
ARL11, CAB39L
+27 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
HTR2A, IFT88
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
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