ClinVar for MedGen (Select 1824047) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1368405	NM_004287.5(GOSR2):c.94+5G>A	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Muscular dystrophy, congenital, with or without seizures +1 more	GUncertain significance
Select item 1324496	NM_004287.5(GOSR2):c.2T>G (p.Met1Arg)	LRRC37A2, GOSR2 (M1R)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy, congenital, with or without seizures	GPathogenic
Select item 997028	NM_004287.5(GOSR2):c.319C>T (p.Arg107Ter)	GOSR2, LRRC37A2 (R106* +2 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy, congenital, with or without seizures +1 more	GPathogenic
Select item 997027	NM_004287.5(GOSR2):c.204-7A>G	GOSR2, LOC126862578 +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 983499	NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter)	LRRC37A2, GOSR2 (Q10* +1 more)	Single nucleotide variant (nonsense +1 more)	Progressive myoclonic epilepsy +1 more	GPathogenic
Select item 424780	NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]			Progressive myoclonic epilepsy type 6	GLikely pathogenic
Select item 211092	NM_004287.5(GOSR2):c.336+1G>A	GOSR2, LRRC37A2	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 30406	NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)	GOSR2, LRRC37A2 (G144W +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +2 more	GPathogenic

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