C1846564[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976105	NM_003119.4(SPG7):c.164C>A (p.Ala55Asp)	LOC130059818, SPG7 (A55D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 6816	NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	SPG7 (L78*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 982736	NM_003119.4(SPG7):c.1238T>A (p.Val413Glu)	SPG7 (V413E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2576623	NM_003119.4(SPG7):c.1249C>T (p.Arg417Cys)	SPG7 (R417C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
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)	SPG7-related disorder +11 more	GPathogenic/Likely pathogenic
Select item 807498	NM_003119.4(SPG7):c.1552+1G>T	SPG7	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic

ClinVar