C4748934[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438929	NM_001330701.2(AGTPBP1):c.3206G>T (p.Cys1069Phe)	AGTPBP1 (C1029F +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GUncertain significance
Select item 2438928	NM_001330701.2(AGTPBP1):c.2738T>A (p.Val913Asp)	AGTPBP1 (V873D +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GUncertain significance
Select item 1323865	NM_001330701.2(AGTPBP1):c.2481T>A (p.Tyr827Ter)	AGTPBP1 (Y787* +3 more)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GLikely pathogenic
Select item 2690507	NM_001330701.2(AGTPBP1):c.2016-2A>G	AGTPBP1	Single nucleotide variant (splice acceptor variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GLikely pathogenic
Select item 2440454	NM_001330701.2(AGTPBP1):c.-34+1G>A	AGTPBP1, LOC130001960	Single nucleotide variant (splice donor variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GLikely pathogenic
Select item 1201667	NM_001330701.2(AGTPBP1):c.-66del	AGTPBP1, LOC130001960 (R53fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar