"Kariminejad - Najmabadi Pathology & Genetics Center"[submitter] AND " - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1180685	NM_025137.4(SPG11):c.6811_6812del (p.Leu2271fs)	SPG11 (L2158fs +1 more)	Microsatellite (frameshift variant)	Abnormal central motor function +1 more	GPathogenic
Select item 1180843	NM_025137.4(SPG11):c.6520_6521del (p.Tyr2174fs)	SPG11 (Y2061fs +1 more)	Deletion (frameshift variant)	Abnormal central motor function	GPathogenic
Select item 1180777	NM_025137.4(SPG11):c.5510T>G (p.Leu1837Ter)	SPG11 (L1837*)	Single nucleotide variant (nonsense)	Abnormal central motor function	GLikely pathogenic
Select item 1180666	NM_025137.4(SPG11):c.5473C>T (p.Gln1825Ter)	SPG11 (Q1825*)	Single nucleotide variant (nonsense)	Abnormal central motor function	GLikely pathogenic
Select item 1180842	NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs)	SPG11 (I1230fs)	Insertion (frameshift variant)	Abnormal central motor function +3 more	GPathogenic/Likely pathogenic
Select item 1117	NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)	SPG11 (E1026fs)	Duplication (frameshift variant)	Abnormal central motor function +3 more	GPathogenic
Select item 1112	NM_025137.4(SPG11):c.733_734del (p.Met245fs)	SPG11 (M245fs)	Deletion (frameshift variant)	Abnormal central motor function +6 more	GPathogenic

ClinVar