U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSEN2
(H177del +1 more)
Microsatellite
(inframe_deletion +1 more)
Pontocerebellar hypoplasia type 2B
GUncertain significance
TSEN2
(R393L +2 more)
Single nucleotide variant
(missense variant +2 more)
Pontocerebellar hypoplasia type 2B
GUncertain significance
TSEN2
(G304R +2 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 2B
GUncertain significance
TSEN2
(A8D)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 2B
GPathogenic
TSEN2
(F280C +2 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 2B
GUncertain significance
TSEN2
(R393* +2 more)
Single nucleotide variant
(nonsense +2 more)
Pontoneocerebellar hypoplasia
+1 more
GConflicting classifications of pathogenicity
TSEN2
(E243K +1 more)
Single nucleotide variant
(missense variant +2 more)
Pontocerebellar hypoplasia type 2B
GLikely pathogenic
TSEN2
(Y257fs +1 more)
Indel
(frameshift variant +1 more)
Pontocerebellar hypoplasia type 2B
GPathogenic
TSEN2
(R291* +2 more)
Single nucleotide variant
(nonsense +1 more)
Pontocerebellar hypoplasia type 2B
+1 more
GConflicting classifications of pathogenicity
TSEN2
(Q118fs)
Deletion
(frameshift variant +1 more)
Pontoneocerebellar hypoplasia
+1 more
GLikely pathogenic
TSEN2
(Y287C +2 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 2B
GLikely pathogenic
TSEN2
(T324M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
TSEN2
(N282S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
TSEN2
(N144S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
TSEN2
(N48del)
Microsatellite
(inframe_deletion +1 more)
Pontocerebellar hypoplasia type 2B
GLikely pathogenic
TSEN2
(Q387R +2 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 2B
GLikely pathogenic
TSEN2
(Q231*)
Single nucleotide variant
(nonsense +2 more)
Pontocerebellar hypoplasia type 2B
GPathogenic
TSEN2
(G312R +2 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 2B
GPathogenic
TSEN2
Deletion
(splice donor variant)
Pontoneocerebellar hypoplasia
GLikely pathogenic
TSEN2
(P218L)
Single nucleotide variant
(missense variant +2 more)
Pontocerebellar hypoplasia type 2B
GUncertain significance
TSEN2
(T203I)
Single nucleotide variant
(missense variant +2 more)
Pontocerebellar hypoplasia type 2B
GUncertain significance
TSEN2
(K130T)
Single nucleotide variant
(missense variant +1 more)
Pontoneocerebellar hypoplasia
+3 more
GBenign/Likely benign
TSEN2
(V108F)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
TSEN2
Single nucleotide variant
(synonymous variant +2 more)
Pontoneocerebellar hypoplasia
+2 more
GConflicting classifications of pathogenicity
TSEN2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TSEN2
(T279R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TSEN2
(Y309C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination