"Genome-Nilou Lab"[submitter] AND "TSEN54"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96673	NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp)	LOC112533671, TSEN54 (E4D)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +5 more	GBenign
Select item 160133	NM_207346.3(TSEN54):c.285+32C>A	TSEN54	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 5 +4 more	GBenign
Select item 160134	NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu)	TSEN54 (I137L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 5 +5 more	GBenign
Select item 160123	NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)	TSEN54 (K347N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A +5 more	GBenign
Select item 96670	NM_207346.3(TSEN54):c.1122G>C (p.Arg374=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 160127	NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val)	TSEN54 (A437V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 5 +5 more	GBenign
Select item 137759	NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)	TSEN54 (P483A)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A +5 more	GBenign

ClinVar