U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126805680, PUM1
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia 47
GUncertain significance
PUM1
(A433T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
+1 more
GUncertain significance
PUM1
(V309A)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
GUncertain significance
PUM1
(A72fs)
Duplication
(frameshift variant)
Spinocerebellar ataxia 47
GPathogenic
PUM1
(S44L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
GUncertain significance
PUM1
(P807L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
GUncertain significance
PUM1
(V3I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
GUncertain significance
PUM1
(N317H)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
+1 more
GUncertain significance
PUM1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PUM1
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia 47
+1 more
GBenign
PUM1
Deletion
(intron variant)
Spinocerebellar ataxia 47
+1 more
GBenign
PUM1
(P299H)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
GUncertain significance
PUM1
(R1010* +1 more)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia 47
GPathogenic
PUM1
(A482T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
GUncertain significance
PUM1
(I853M)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
GUncertain significance
PUM1
(D16Y)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
GLikely pathogenic
PUM1
(E1093K +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
GUncertain significance
PUM1
(V122M)
Single nucleotide variant
(missense variant)
Seizure
+3 more
GConflicting classifications of pathogenicity
PUM1
(S802F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PUM1
(S592fs)
Deletion
(frameshift variant)
Spinocerebellar ataxia 47
GLikely pathogenic
PUM1
(R1137W +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
GLikely pathogenic
PUM1
(T1033S +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
+1 more
GLikely pathogenic
PUM1
(R1145W +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
+2 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination