"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PCLO"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 708091	NM_033026.6(PCLO):c.13495A>G (p.Ile4499Val)	PCLO (I4499V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1419372	NM_033026.6(PCLO):c.11945G>A (p.Arg3982His)	PCLO (R3982H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1336777	NM_033026.6(PCLO):c.10146T>G (p.Thr3382=)	PCLO	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1445134	NM_033026.6(PCLO):c.7571A>T (p.Gln2524Leu)	PCLO (Q2524L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +1 more	GUncertain significance
Select item 782005	NM_033026.6(PCLO):c.6174A>G (p.Leu2058=)	PCLO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1452962	NM_033026.6(PCLO):c.4595G>A (p.Ser1532Asn)	PCLO (S1532N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3 +1 more	GLikely benign
Select item 810117	NM_033026.6(PCLO):c.311G>A (p.Arg104His)	PCLO (R104H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance

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