"Centogene AG - the Rare Disease Company"[submitter] AND "SPG7"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 411675	NM_003119.4(SPG7):c.1053dup (p.Gly352fs)	SPG7 (G352fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 7 +3 more	GPathogenic
Select item 411680	NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)	SPG7	Deletion (splice acceptor variant)	Hereditary spastic paraplegia 7 +10 more	GPathogenic
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic/Likely pathogenic

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