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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GOSR2, LRRC37A2
(M1R)
Single nucleotide variant
(missense variant +3 more)
Muscular dystrophy, congenital, with or without seizures
GPathogenic
GOSR2, LRRC37A2
(R106* +2 more)
Single nucleotide variant
(nonsense +1 more)
Muscular dystrophy, congenital, with or without seizures
+1 more
GPathogenic
GOSR2, LOC126862578
+1 more
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
(Q10* +1 more)
Single nucleotide variant
(nonsense +1 more)
Progressive myoclonic epilepsy
+1 more
GPathogenic
Progressive myoclonic epilepsy type 6
GLikely pathogenic
GOSR2, LRRC37A2
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
GOSR2, LRRC37A2
(G144W +2 more)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
+2 more
GPathogenic
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