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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSEN54
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 2A
GUncertain significance
TSEN54
(R59G)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2A
+1 more
GUncertain significance
TSEN54
(R396W)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 4
+3 more
GUncertain significance
TSEN54
(R316C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TSEN54
(R379Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSEN54
(R438Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
TSEN54
(P270S)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2A
GUncertain significance
TSEN54
(K213E)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2A
+1 more
GUncertain significance
TSEN54
(R56H)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2A
GUncertain significance
TSEN54
(L427P)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2A
GUncertain significance
TSEN54
(F512S)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2A
GLikely pathogenic
TSEN54
(K347*)
Single nucleotide variant
(nonsense)
Pontocerebellar hypoplasia type 4
+3 more
GPathogenic/Likely pathogenic
TSEN54
(K347Y)
Indel
(missense variant)
not provided
+3 more
GUncertain significance
TSEN54
(L314fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia type 4
+2 more
GPathogenic
TSEN54
(G124V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSEN54
(K345N)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2A
+1 more
GUncertain significance
TSEN54
(K224fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia type 4
+3 more
GPathogenic
TSEN54
(S28L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
TSEN54
(V275fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia type 2A
GPathogenic
TSEN54
(G467fs)
Duplication
(frameshift variant)
Pontocerebellar hypoplasia type 2A
GPathogenic
TSEN54
(K463*)
Insertion
(nonsense)
Pontocerebellar hypoplasia type 2A
GPathogenic
TSEN54
(R208W)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
TSEN54
(I137L)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 5
+5 more
GBenign
TSEN54
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 4
+4 more
GBenign
TSEN54
(A437V)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
+5 more
GBenign
TSEN54
(K347N)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
+5 more
GBenign
TSEN54
(P483A)
Single nucleotide variant
(missense variant)
Pontoneocerebellar hypoplasia
+5 more
GBenign
LOC112533671, TSEN54
(E4D)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 5
+5 more
GBenign
TSEN54
Single nucleotide variant
(synonymous variant)
Pontoneocerebellar hypoplasia
+5 more
GBenign
TSEN54
(A307S +1 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2A
GLikely pathogenic
TSEN54
(A307S)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 4
+14 more
GPathogenic/Likely pathogenic
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