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Items: 1 to 100 of 3000

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
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
LOC124900143, LOC124900144
+266 more
Copy number loss
See cases
GPathogenic
ALG11, ATP7B
+35 more
Copy number gain
See cases
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GBenign
ATP7B, TMEM272
Deletion
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GLikely benign
TMEM272, ATP7B
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GBenign
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GBenign
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
TMEM272, ATP7B
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
TMEM272, ATP7B
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
+1 more
GConflicting classifications of pathogenicity
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GBenign
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GBenign
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GLikely benign
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Deletion
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B, TMEM272
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ATP7B
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
+1 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(3 prime UTR variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATP7B
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign/Likely benign
ATP7B
Single nucleotide variant
(stop lost)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
(Y1386S +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
(Q1379R +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(Q1463* +4 more)
Single nucleotide variant
(nonsense)
Wilson disease
GUncertain significance
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