"Baylor Genetics"[submitter] AND "TSEN54"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033698	NM_207346.3(TSEN54):c.167G>A (p.Arg56His)	TSEN54 (R56H)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A	GUncertain significance
Select item 1029381	NM_207346.3(TSEN54):c.462G>C (p.Gln154His)	TSEN54 (Q154H)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 5 +1 more	GUncertain significance
Select item 1033699	NM_207346.3(TSEN54):c.637A>G (p.Lys213Glu)	TSEN54 (K213E)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A +1 more	GUncertain significance
Select item 1033700	NM_207346.3(TSEN54):c.808C>T (p.Pro270Ser)	TSEN54 (P270S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A	GUncertain significance
Select item 2120	NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	TSEN54 (A307S)	Single nucleotide variant (missense variant)	Global developmental delay +14 more	GPathogenic
Select item 561138	NM_207346.3(TSEN54):c.940del (p.Leu314fs)	TSEN54 (L314fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 287549	NM_207346.3(TSEN54):c.1035G>C (p.Lys345Asn)	TSEN54 (K345N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A +1 more	GUncertain significance
Select item 212449	NM_207346.3(TSEN54):c.1057C>T (p.Arg353Trp)	TSEN54 (R353W)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1029380	NM_207346.3(TSEN54):c.1280T>C (p.Leu427Pro)	TSEN54 (L427P)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A	GUncertain significance
Select item 890282	NM_207346.3(TSEN54):c.1381T>C (p.Phe461Leu)	TSEN54 (F461L)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +1 more	GUncertain significance