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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATN1
(S527Y +3 more)
Single nucleotide variant
(missense variant)
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
+1 more
GUncertain significance
LOC109461484, ATN1
Single nucleotide variant
(synonymous variant)
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
+2 more
GLikely benign
ATN1, LOC109461484
(Q502del)
Microsatellite
(inframe_deletion)
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
+1 more
GLikely benign
ATN1
Microsatellite
(inframe_insertion)
Dentatorubral-pallidoluysian atrophy
GLikely pathogenic
ATN1, LOC109461484
Microsatellite
(inframe_insertion)
Dentatorubral-pallidoluysian atrophy
+3 more
GBenign/Likely benign
ATN1
Microsatellite
Dentatorubral-pallidoluysian atrophy
GPathogenic
Microsatellite
Dentatorubral-pallidoluysian atrophy
GPathogenic
ATN1, LOC109461484
Microsatellite
(inframe_insertion)
Dentatorubral-pallidoluysian atrophy
+2 more
GConflicting classifications of pathogenicity
LOC109461484, ATN1
Microsatellite
Dentatorubral-pallidoluysian atrophy
GPathogenic
ATN1, LOC109461484
Microsatellite
Dentatorubral-pallidoluysian atrophy
GBenign
ATN1, LOC109461484
Microsatellite
Dentatorubral-pallidoluysian atrophy
GPathogenic
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