"Ambry Genetics"[submitter] AND "ERLIN2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2066520	NM_007175.8(ERLIN2):c.136G>A (p.Gly46Ser)	ERLIN2 (G46S)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2054083	NM_007175.8(ERLIN2):c.249G>T (p.Met83Ile)	ERLIN2 (M83I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 435088	NM_007175.8(ERLIN2):c.299-4_299-3del	ERLIN2	Microsatellite (intron variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 435089	NM_007175.8(ERLIN2):c.589G>A (p.Ala197Thr)	ERLIN2 (A197T)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 998524	NM_007175.8(ERLIN2):c.820C>A (p.Leu274Met)	ERLIN2 (L274M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1383576	NM_007175.8(ERLIN2):c.862G>C (p.Ala288Pro)	ERLIN2 (A288P)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2231154	NM_007175.8(ERLIN2):c.884T>C (p.Ile295Thr)	ERLIN2 (I295T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2165439	NM_007175.8(ERLIN2):c.899A>G (p.Asp300Gly)	ERLIN2 (D300G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance