Related gene-specific medical variations for Gene (Select 11160) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359579	NM_007175.8(ERLIN2):c.295G>A (p.Ala99Thr)	ERLIN2 (A99T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989006	NM_007175.8(ERLIN2):c.877A>G (p.Ser293Gly)	ERLIN2 (S293G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 18	GPathogenic
Select item 989005	NM_007175.8(ERLIN2):c.819G>A (p.Lys273=)	ERLIN2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 18	GPathogenic
Select item 989004	NM_007175.8(ERLIN2):c.799A>G (p.Lys267Glu)	ERLIN2 (K267E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 18	GPathogenic
Select item 989003	NM_007175.8(ERLIN2):c.430A>G (p.Ile144Val)	ERLIN2 (I144V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GPathogenic
Select item 989002	NM_007175.8(ERLIN2):c.374A>G (p.Asn125Ser)	ERLIN2 (N125S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GPathogenic
Select item 810275	NM_007175.8(ERLIN2):c.395C>T (p.Thr132Met)	ERLIN2 (T132M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383997	NM_007175.8(ERLIN2):c.-42G>C	ERLIN2, LOC130000200 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 374613	NM_007175.8(ERLIN2):c.237-1G>A	ERLIN2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

ClinVar