"Revvity Omics, Revvity"[submitter] AND "LRRC37A2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434446	NM_006178.4(NSF):c.1688C>G (p.Pro563Arg)	LRRC37A2, NSF (P563R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 96	GLikely pathogenic
Select item 1061696	NM_004287.5(GOSR2):c.1A>G (p.Met1Val)	LRRC37A2, GOSR2 (M1V)	Single nucleotide variant (missense variant +3 more)	Progressive myoclonic epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 2432234	NM_004287.5(GOSR2):c.5A>C (p.Asp2Ala)	GOSR2, LRRC37A2 (D2A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 137489	NM_004287.5(GOSR2):c.29+8C>T	LRRC37A2, GOSR2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 1956133	NM_004287.5(GOSR2):c.121A>G (p.Ile41Val)	GOSR2, LOC126862578 +1 more (I23V +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 205636	NM_004287.5(GOSR2):c.206G>A (p.Arg69Gln)	GOSR2, LOC126862578 +1 more (R69Q +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 933581	NM_004287.5(GOSR2):c.229G>A (p.Val77Ile)	GOSR2, LOC126862578 +1 more (V76I +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 205634	NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro)	GOSR2, LRRC37A2 (T108P +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +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)	Progressive myoclonic epilepsy type 6 +3 more	GPathogenic/Likely pathogenic
Select item 589948	NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys)	GOSR2, LRRC37A2 (E122K +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 1303937	NM_004287.5(GOSR2):c.448G>A (p.Gly150Arg)	GOSR2, LRRC37A2 (G132R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 205631	NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser)	GOSR2, LRRC37A2 (N170S +5 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy type 6 +3 more	GUncertain significance