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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC108663996, TBP
Microsatellite
(inframe_insertion)
Spinocerebellar ataxia type 17
GPathogenic
TBP
(P137L +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 17
GUncertain significance
LOC108663996, TBP
(Q55fs +1 more)
Insertion
(frameshift variant)
Spinocerebellar ataxia type 17
GUncertain significance
LOC108663996, TBP
Microsatellite
Spinocerebellar ataxia type 17
+1 more
GPathogenic; risk factor
LOC108663996, TBP
(Q95del +1 more)
Deletion
(inframe_deletion)
not provided
+1 more
GBenign
LOC108663996, TBP
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
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