ClinVar (all) for Orgtrack (Select 506679) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1120051	NM_005518.4(HMGCS2):c.72dup (p.Pro25fs)	HMGCS2, LOC122094910 (P25fs)	Duplication (frameshift variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic
Select item 1120050	NM_014889.4(PITRM1):c.2236-1dup	PITRM1, PITRM1-AS1	Duplication (splice acceptor variant +1 more)	Infantile onset spinocerebellar ataxia	GPathogenic
Select item 1120017	NM_001242898.2(PPP6R2):c.228-326A>G	PPP6R2, LOC126863186	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B3	GPathogenic
Select item 1120016	NM_002972.4(SBF1):c.2289C>T (p.Arg763=)	SBF1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B3	GPathogenic
Select item 625152	NM_017534.6(MYH2):c.2377C>T (p.Arg793Ter)	MYH2, MYHAS (R793*)	Single nucleotide variant (nonsense)	Myopathy, proximal, and ophthalmoplegia +1 more	GPathogenic
Select item 562229	NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter)	CYP2U1 (R390*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 56 +2 more	GPathogenic
Select item 559579	NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)	KCTD7 (A178V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GConflicting classifications of pathogenicity
Select item 469100	NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg)	KCTD7 (G58R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3	GUncertain significance

ClinVar