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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATXN1, LOC108663993
Insertion
(inframe_insertion +1 more)
Spinocerebellar ataxia type 1
GUncertain significance
ATXN1
(A501V)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 1
GUncertain significance
ATXN1
(G258C)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 1
+1 more
GBenign/Likely benign
ATXN1
(A602S)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 1
GUncertain significance
LOC108663993, ATXN1
(Q203H)
Single nucleotide variant
(missense variant +1 more)
ATXN1-related disorder
+2 more
GConflicting classifications of pathogenicity
ATXN1, LOC108663993
Microsatellite
(inframe_insertion +1 more)
ATXN1-related disorder
+1 more
GBenign
ATXN1
(A717V)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 1
+1 more
GLikely benign
ATXN1, LOC108663993
Microsatellite
(inframe_insertion +1 more)
Spinocerebellar ataxia type 1
+2 more
GBenign/Likely benign
LOC108663993, ATXN1
(Q207H)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 1
+1 more
GConflicting classifications of pathogenicity
ATXN1, LOC108663993
Microsatellite
Spinocerebellar ataxia type 1
GPathogenic
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