"OMIM"[submitter] AND "TOE1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417748	NM_025077.4(TOE1):c.307G>A (p.Ala103Thr)	TOE1 (A103T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic/Likely pathogenic
Select item 417747	NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr)	TOE1 (F148Y)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic/Likely pathogenic
Select item 417749	NM_025077.4(TOE1):c.518T>G (p.Val173Gly)	TOE1 (V173G)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic/Likely pathogenic
Select item 417746	NM_025077.4(TOE1):c.658G>A (p.Glu220Lys)	TOE1 (E220K)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic/Likely pathogenic
Select item 524117	NM_025077.4(TOE1):c.940_941del (p.Gln314fs)	TOE1 (Q314fs)	Microsatellite (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 417751	NM_025077.4(TOE1):c.957C>A (p.His319Gln)	TOE1 (H319Q)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic

ClinVar