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Links from Gene

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EXOSC5
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
EXOSC5
(R190W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(R149W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EXOSC5
(E174G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC5
(A158V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC5
(S235G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(R222H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(E77K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(H6R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(A56V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EXOSC5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EXOSC5
(E4G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(F221L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(V118A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(V155F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(R222C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC5
(R40P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(V166M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACTMAP, AKT2
+84 more
Duplication
TWIST1-related craniosynostosis
+3 more
GUncertain significance
EXOSC5
(A104V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(E63K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(A216T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(E103K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(D162Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EXOSC5
(A137T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EXOSC5
(R178Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
EXOSC5
(G127R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC5
(R113H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXOSC5
(D8E)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
GUncertain significance
EXOSC5
(T17I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EXOSC5
(M148T)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
+1 more
GUncertain significance
EXOSC5
Single nucleotide variant
(missense variant)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
GPathogenic/Likely pathogenic
EXOSC5
(H30fs)
Deletion
(frameshift variant)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
GPathogenic
EXOSC5
Single nucleotide variant
(missense variant)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
GPathogenic
EXOSC5
Deletion
(splice acceptor variant +1 more)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
GPathogenic
EXOSC5
Single nucleotide variant
(missense variant)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
GPathogenic/Likely pathogenic
EXOSC5
(T5M)
Single nucleotide variant
(missense variant)
not provided
GBenign
B3GNT8, BCKDHA
+10 more
Copy number gain
not provided
GUncertain significance
B9D2, CYP2S1
+13 more
Copy number gain
not provided
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
BCKDHA, EXOSC5
+1 more
Copy number loss
See cases
GUncertain significance
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
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