"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 252625	NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys)	KDM5C (R1435C +3 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 1299794	NM_004187.5(KDM5C):c.3533C>T (p.Ser1178Leu)	KDM5C (S1111L +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1197312	NM_004187.5(KDM5C):c.2944C>T (p.Arg982Cys)	KDM5C (R915C +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 211248	NM_004187.5(KDM5C):c.2823A>G (p.Ser941=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition +3 more	GBenign
Select item 1206342	NM_004187.5(KDM5C):c.2243+7A>G	KDM5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 94871	NM_004187.5(KDM5C):c.1794C>T (p.Pro598=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 166871	NM_004187.5(KDM5C):c.1764G>A (p.Gln588=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition +4 more	GBenign/Likely benign

ClinVar