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Items: 1 to 100 of 107

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
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
ACOD1, AKAP11
+992 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
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
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
ACOD1, ATXN8OS
+258 more
Copy number loss
See cases
GPathogenic
ACOD1, ATXN8OS
+202 more
Copy number loss
See cases
GPathogenic
ATXN8OS, BORA
+70 more
Copy number gain
See cases
GPathogenic
ATXN8OS, KLHL1
+23 more
Copy number gain
See cases
GUncertain significance
LOC130009900, LOC130009901
+232 more
Copy number loss
See cases
GPathogenic
ATXN8OS, KLHL1
+2 more
Copy number gain
See cases
GUncertain significance
ATXN8OS, KLHL1
+2 more
Copy number loss
See cases
GUncertain significance
ATXN8OS, KLHL1
+2 more
Copy number loss
See cases
GUncertain significance
ATXN8OS, KLHL1
+6 more
Copy number gain
See cases
GLikely benign
ATXN8OS, KLHL1
(P82R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATXN8OS, KLHL1
(P82S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATXN8OS, KLHL1
(S80P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATXN8OS, KLHL1
(S79A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN8OS, KLHL1
Single nucleotide variant
(synonymous variant +1 more)
KLHL1-related disorder
GBenign
ATXN8OS, KLHL1
(E61D)
Single nucleotide variant
(missense variant +1 more)
KLHL1-related disorder
GBenign
ATXN8OS, KLHL1
(S52N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATXN8OS, KLHL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATXN8OS, KLHL1
(P32L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN8OS, KLHL1
(G31C)
Single nucleotide variant
(missense variant +1 more)
KLHL1-related disorder
GLikely benign
ATXN8OS, KLHL1
(G30S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN8OS, KLHL1
Single nucleotide variant
(synonymous variant +1 more)
KLHL1-related disorder
GLikely benign
ATXN8OS, KLHL1
(T29I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATXN8OS, KLHL1
(S4C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN8OS
Single nucleotide variant
(non-coding transcript variant)
ATXN8OS-related disorder
GLikely benign
ATXN8OS
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
ATXN8OS
Single nucleotide variant
(non-coding transcript variant)
ATXN8OS-related disorder
GLikely benign
ATXN8OS
Single nucleotide variant
(non-coding transcript variant)
ATXN8OS-related disorder
GLikely benign
ATXN8OS, LOC109461478
Deletion
(non-coding transcript variant)
ATXN8OS-related disorder
GBenign
ATXN8, ATXN8OS
+1 more
Microsatellite
Spinocerebellar ataxia type 8
GBenign
ATXN8OS, LOC109461478
Single nucleotide variant
(non-coding transcript variant)
ATXN8OS-related disorder
GBenign
ATXN8OS, LOC109461478
Deletion
(non-coding transcript variant)
ATXN8OS-related disorder
GBenign
ATXN8OS, LOC109461478
Single nucleotide variant
(non-coding transcript variant)
ATXN8OS-related disorder
GBenign
ATXN8OS
Single nucleotide variant
(non-coding transcript variant)
ATXN8OS-related disorder
GLikely benign
ATXN8OS
Single nucleotide variant
(non-coding transcript variant)
ATXN8OS-related disorder
GBenign
ATXN8OS
Single nucleotide variant
(non-coding transcript variant)
ATXN8OS-related disorder
GLikely benign
ATXN8OS
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
ATXN8OS
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
ATXN8OS
Deletion
Normal pregnancy
Gnot provided
ATXN8OS, KLHL1
Copy number gain
not specified
GUncertain significance
ACOD1, ATXN8OS
+49 more
Copy number loss
not specified
GPathogenic
ABCC4, ACOD1
+81 more
Copy number loss
not specified
GPathogenic
ABCC4, ACOD1
+102 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+129 more
Copy number gain
not provided
GPathogenic
CCDC169-SOHLH2, CCDC70
+332 more
Copy number gain
not provided
GPathogenic
PCID2, PCOTH
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
ATXN8OS, BORA
+9 more
Copy number loss
not specified
GUncertain significance
ACOD1, ATXN8OS
+29 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+129 more
Copy number gain
not specified
GPathogenic
ACOD1, AKAP11
+120 more
Copy number loss
not specified
GPathogenic
CLN5, CNMD
+147 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
ACOD1, ATXN8OS
+35 more
Copy number loss
not provided
GPathogenic
ATXN8OS, KLHL1
Copy number loss
not provided
GUncertain significance
MRPL57, MRPS31
+332 more
Copy number gain
See cases
GPathogenic
DGKH, DHRS12
+332 more
Copy number gain
See cases
GPathogenic
ATXN8OS, KLHL1
Copy number loss
not provided
GUncertain significance
ATXN8OS, KLHL1
Copy number gain
not provided
GUncertain significance
ATXN8OS, BORA
+10 more
Copy number gain
See cases
GUncertain significance
ATXN8OS, KLHL1
Copy number gain
not provided
GUncertain significance
ATXN8OS, KLHL1
Copy number gain
not provided
GUncertain significance
ABCC4, ABHD13
+142 more
Copy number loss
not provided
GPathogenic
KLF5, KLHL1
+62 more
Copy number loss
not provided
GPathogenic
ATXN8OS, KLHL1
Copy number gain
not provided
GUncertain significance
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
ATXN8OS, DACH1
+1 more
Copy number loss
not provided
GUncertain significance
ABCC4, ABHD13
+129 more
Copy number gain
not provided
GPathogenic
ATXN8OS, KLHL1
Copy number loss
not provided
GUncertain significance
AKAP11, ALG11
+211 more
Copy number gain
not provided
GPathogenic
ATXN8OS, KLHL1
+1 more
Copy number gain
not provided
GUncertain significance
ATXN8OS, KLHL1
Copy number loss
not provided
GUncertain significance
ATXN8OS, KLHL1
Copy number gain
not provided
GUncertain significance
ABCC4, ACOD1
+60 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+137 more
Copy number gain
See cases
GPathogenic
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