"ITMI"[submitter] AND "KDM5C"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134590	NM_004187.5(KDM5C):c.*132C>G	KDM5C (P1350R)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 134592	NM_004187.5(KDM5C):c.4597A>C (p.Thr1533Pro)	KDM5C (T1533P +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 134593	NM_004187.5(KDM5C):c.4498G>A (p.Glu1500Lys)	KDM5C (E1500K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134589	NM_004187.5(KDM5C):c.4030A>G (p.Met1344Val)	KDM5C (M1344V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 134588	NM_004187.5(KDM5C):c.2705A>G (p.Gln902Arg)	KDM5C (Q902R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134587	NM_004187.5(KDM5C):c.2507A>G (p.Gln836Arg)	KDM5C (Q836R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134591	NM_004187.5(KDM5C):c.738G>C (p.Met246Ile)	KDM5C (M246I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided

ClinVar