"3billion"[submitter] AND "SPG11"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687152	NM_025137.4(SPG11):c.7321_7328del (p.Ala2442fs)	SPG11 (A2329fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1333543	NM_025137.4(SPG11):c.6999+1G>A	SPG11	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 41340	NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)	SPG11 (R2031*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 11 +3 more	GPathogenic
Select item 374112	NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	SPG11 (L1794P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +7 more	GConflicting classifications of pathogenicity
Select item 41285	NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)	SPG11 (Q716*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11 +2 more	GPathogenic/Likely pathogenic
Select item 41367	NM_025137.4(SPG11):c.869+1G>A	SPG11	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 1114	NM_025137.4(SPG11):c.442+1G>C	SPG11	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia +2 more	GPathogenic

ClinVar