ClinVar for MedGen (Select 1681379) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 934652	NM_004287.5(GOSR2):c.336C>T (p.Asn112=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy type 6 +2 more	GConflicting classifications of pathogenicity
Select item 695955	NM_004287.5(GOSR2):c.94+7A>C	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 6 +2 more	GConflicting classifications of pathogenicity
Select item 424780	NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]			Progressive myoclonic epilepsy type 6	GLikely pathogenic
Select item 323823	NM_004287.5(GOSR2):c.336+9G>A	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 6 +2 more	GConflicting classifications of pathogenicity
Select item 323821	NM_004287.5(GOSR2):c.29+13C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 6 +2 more	GConflicting classifications of pathogenicity
Select item 211092	NM_004287.5(GOSR2):c.336+1G>A	GOSR2, LRRC37A2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 208982	NM_004287.5(GOSR2):c.485AGA[2] (p.Lys164del)	GOSR2, LRRC37A2 (K164del +5 more)	Microsatellite (inframe_deletion +1 more)	Progressive myoclonic epilepsy type 6	GPathogenic
Select item 205631	NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser)	LRRC37A2, GOSR2 (N170S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 205628	NM_004287.5(GOSR2):c.111C>T (p.Ile37=)	GOSR2, LOC126862578 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 193275	NM_004287.5(GOSR2):c.-12G>C	LRRC37A2, GOSR2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 137489	NM_004287.5(GOSR2):c.29+8C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 137487	NM_004287.5(GOSR2):c.-30G>C	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 129165	NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)	LRRC37A2, GOSR2 +1 more (R67K +2 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, progressive, X-linked +5 more	GBenign
Select item 30406	NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)	GOSR2, LRRC37A2 (G144W +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic