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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSEN54
(R387L)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 4
+1 more
GUncertain significance
TSEN54
(P318fs)
Deletion
(frameshift variant)
Methylmalonic aciduria and homocystinuria type cblD
+3 more
GPathogenic
TSEN54
(K293fs)
Duplication
(frameshift variant)
Pontocerebellar hypoplasia type 4
GPathogenic
TSEN54
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 4
GPathogenic
TSEN54
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 4
GLikely pathogenic
TSEN54
(V168G)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 4
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
(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
(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
(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
Duplication
(inframe_insertion +1 more)
Pontoneocerebellar hypoplasia
+3 more
GConflicting classifications of pathogenicity
LOC112533671, TSEN54
(E4D)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 5
+5 more
GBenign
TSEN54
(H38Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
TSEN54
Single nucleotide variant
(synonymous variant)
Pontoneocerebellar hypoplasia
+5 more
GBenign
TSEN54
(S93P)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 4
+1 more
GUncertain significance
TSEN54
(Q391fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TSEN54
(Q343*)
Single nucleotide variant
(nonsense)
Pontocerebellar hypoplasia type 4
GPathogenic
TSEN54
(Q246*)
Single nucleotide variant
(nonsense)
Pontocerebellar hypoplasia type 5
+1 more
GPathogenic/Likely pathogenic
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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