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Items: 1 to 100 of 267

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
ALG11, ATP7B
+7 more
Duplication
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, ATP7B
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation
+2 more
GBenign
ALG11, ATP7B
Duplication
(genic upstream transcript variant)
ALG11-congenital disorder of glycosylation
+5 more
GBenign/Likely benign
ALG11
Single nucleotide variant
not provided
GLikely benign
ALG11, ATP7B
+1 more
Single nucleotide variant
ALG11-congenital disorder of glycosylation
+2 more
GUncertain significance
ALG11, LOC130009841
(E5fs)
Duplication
(frameshift variant +2 more)
not provided
GUncertain significance
ALG11, LOC130009841
Single nucleotide variant
(5 prime UTR variant +1 more)
ALG11-related disorder
GLikely benign
ALG11, LOC130009841
(M1V)
Single nucleotide variant
(missense variant +2 more)
ALG11-congenital disorder of glycosylation
GLikely pathogenic
LOC130009841, ALG11
(M1T)
Single nucleotide variant
(missense variant +2 more)
ALG11-congenital disorder of glycosylation
GLikely pathogenic
ALG11, LOC130009841
(A2V)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, LOC130009841
Single nucleotide variant
(synonymous variant +1 more)
ALG11-congenital disorder of glycosylation
GLikely benign
LOC130009841, ALG11
(G4S)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG11, LOC130009841
(E5G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALG11, LOC130009841
Single nucleotide variant
(synonymous variant +1 more)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, LOC130009841
(S7R)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, LOC130009841
(C9Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ALG11, LOC130009841
Single nucleotide variant
(synonymous variant +1 more)
ALG11-related disorder
GLikely benign
ALG11, LOC130009841
(C9*)
Single nucleotide variant
(nonsense +1 more)
ALG11-congenital disorder of glycosylation
GPathogenic
ALG11, LOC130009841
(C11G)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, LOC130009841
(R15T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ALG11, LOC130009841
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALG11, LOC130009841
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, LOC130009841
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, LOC130009841
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
+1 more
GBenign/Likely benign
ALG11, LOC130009842
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
+1 more
GLikely benign
ALG11
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALG11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALG11
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
ALG11
(G24R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(V33M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALG11
(I37M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALG11
(I42V)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(L46P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALG11
(S56R)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(N58I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ALG11
(N61S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALG11
(M63L)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(V64M)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(I65F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALG11
(N73S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALG11
(R80G)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(C84Y)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(L86V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALG11
(L86S)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GPathogenic
ALG11
Single nucleotide variant
(intron variant)
not provided
GBenign
ALG11
Duplication
(intron variant)
not provided
GBenign
ALG11
Indel
(intron variant)
not provided
GUncertain significance
ALG11
(P94R)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(V100A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11
(G103S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11
(N108S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
ALG11
(G109S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALG11
(I122L)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11
(R136C)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG11
(R136H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11
(G160V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALG11
(M165T)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(Q166R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALG11
(D174E)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG11
(M176V)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11
(A179T)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-related disorder
GLikely benign
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
+1 more
GLikely benign
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