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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D23
(M153T)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 11
GUncertain significance
TBC1D23
(V340fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia, type 11
GPathogenic
TBC1D23
(R502K)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 11
GUncertain significance
TBC1D23
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia, type 11
GUncertain significance
TBC1D23
Duplication
(intron variant)
Pontocerebellar hypoplasia, type 11
GBenign
TBC1D23
(F205fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia, type 11
GLikely pathogenic
TBC1D23
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia, type 11
GPathogenic
TBC1D23
(T211fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia, type 11
GLikely pathogenic
TBC1D23
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia, type 11
+1 more
GBenign
TBC1D23
(G335V)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 11
GUncertain significance
TBC1D23
(P180S)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 11
GUncertain significance
TBC1D23
(G613V +1 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 11
GUncertain significance
TBC1D23
(A57V)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 11
GUncertain significance
TBC1D23
(D443N)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 11
GUncertain significance
TBC1D23
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia, type 11
GPathogenic
TBC1D23
(C31S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
TBC1D23
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia, type 11
GPathogenic
TBC1D23
Single nucleotide variant
(splice donor variant)
Pontocerebellar hypoplasia, type 11
GLikely pathogenic
TBC1D23
Single nucleotide variant
(splice donor variant)
Pontoneocerebellar hypoplasia
+1 more
GPathogenic
TBC1D23
(I509fs)
Indel
(frameshift variant)
Pontocerebellar hypoplasia, type 11
+1 more
GPathogenic
TBC1D23
(V492fs)
Microsatellite
(frameshift variant)
Pontoneocerebellar hypoplasia
+1 more
GPathogenic
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