"Ambry Genetics"[submitter] AND "SPG21"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2314281	NM_016630.7(SPG21):c.871G>A (p.Ala291Thr)	SPG21 (A291T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 573515	NM_016630.7(SPG21):c.862A>G (p.Met288Val)	SPG21 (M288V +1 more)	Single nucleotide variant (missense variant)	Mast syndrome +3 more	GUncertain significance
Select item 3169001	NM_016630.7(SPG21):c.845C>T (p.Ala282Val)	SPG21 (A255V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245977	NM_016630.7(SPG21):c.740G>A (p.Arg247Lys)	SPG21 (R220K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514575	NM_016630.7(SPG21):c.643C>T (p.Arg215Trp)	SPG21 (R188W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169000	NM_016630.7(SPG21):c.630A>C (p.Glu210Asp)	SPG21 (E210D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344115	NM_016630.7(SPG21):c.304A>G (p.Lys102Glu)	SPG21 (K102E)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1306992	NM_016630.7(SPG21):c.233A>G (p.Tyr78Cys)	SPG21 (Y78C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1344111	NM_016630.7(SPG21):c.172G>A (p.Val58Ile)	SPG21 (V58I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 316723	NM_016630.7(SPG21):c.104A>G (p.Tyr35Cys)	SPG21 (Y35C)	Single nucleotide variant (missense variant)	Mast syndrome +1 more	GUncertain significance
Select item 2488881	NM_016630.7(SPG21):c.11T>C (p.Ile4Thr)	SPG21 (I4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance