U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 146

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
PDS5B, PDX1
+566 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
LOC130009528, LOC130009529
+620 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
ALG5, ALOX5AP
+213 more
Copy number loss
See cases
GPathogenic
ACOD1, AKAP11
+1004 more
Copy number gain
See cases
GPathogenic
AKAP11, ALG11
+780 more
Copy number loss
See cases
GPathogenic
AKAP11, ALG5
+485 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
ALG5, CCDC169
+146 more
Copy number loss
See cases
GPathogenic
AKAP11, ALG11
+604 more
Copy number loss
See cases
GPathogenic
EXOSC8
Single nucleotide variant
not provided
GBenign
EXOSC8
Deletion
not provided
GBenign
EXOSC8
Deletion
not provided
GBenign
EXOSC8, LOC130009580
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
EXOSC8, LOC130009580
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
EXOSC8, LOC130009580
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
EXOSC8
(M1R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
EXOSC8
(A2V)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 1C
GPathogenic
EXOSC8
(A3S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EXOSC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EXOSC8, LOC130009581
(G4A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130009581, EXOSC8
(F5L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EXOSC8, LOC130009581
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia, type 1C
GUncertain significance
EXOSC8, LOC130009581
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EXOSC8, LOC130009581
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EXOSC8
(P10S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
(R16del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
EXOSC8
Insertion
(intron variant)
not provided
GLikely benign
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EXOSC8
Microsatellite
(intron variant)
Pontocerebellar hypoplasia, type 1C
+1 more
GBenign/Likely benign
EXOSC8
(G30del)
Deletion
(inframe_deletion)
Pontocerebellar hypoplasia, type 1C
+1 more
GConflicting classifications of pathogenicity
EXOSC8
(T35I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GBenign
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EXOSC8
(A45T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
(T56A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EXOSC8
(T57A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
EXOSC8
Duplication
(intron variant)
not provided
GLikely benign
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GBenign
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
EXOSC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EXOSC8
(T71A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EXOSC8
(D72E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
(D75V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EXOSC8
(V79A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
Duplication
(intron variant)
not provided
GBenign
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EXOSC8
(P81S)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 1C
GUncertain significance
EXOSC8
(N82D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
(D84G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
(P87H)
Single nucleotide variant
(missense variant)
not provided
GBenign
EXOSC8
(L88P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
(C89Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
(S90*)
Single nucleotide variant
(nonsense)
Spastic ataxia
GPathogenic
EXOSC8
(S91L)
Single nucleotide variant
(missense variant)
not provided
GBenign
EXOSC8
(R94Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EXOSC8
(S106R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
EXOSC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GBenign
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EXOSC8
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
EXOSC8
(D143N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
EXOSC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EXOSC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EXOSC8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
EXOSC8
(F154L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EXOSC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EXOSC8
(A158V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
Single nucleotide variant
(synonymous variant)
EXOSC8-related disorder
+2 more
GLikely benign
EXOSC8
(N162D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
Deletion
(intron variant)
not provided
GLikely benign
EXOSC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EXOSC8
(V163A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EXOSC8
(I170V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
EXOSC8
(V179F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
(N180fs)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
EXOSC8
(L181del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
EXOSC8
(R190K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC8
(D202V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination