"Revvity Omics, Revvity"[submitter] AND "TSEN54"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1325243	NM_207346.3(TSEN54):c.2T>C (p.Met1Thr)	LOC112533671, TSEN54 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2434304	NM_207346.3(TSEN54):c.789_798del (p.Leu264fs)	TSEN54 (L264fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2120	NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	TSEN54 (A307S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 4 +14 more	GPathogenic/Likely pathogenic
Select item 1935982	NM_207346.3(TSEN54):c.971C>T (p.Pro324Leu)	TSEN54 (P324L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1699689	NM_207346.3(TSEN54):c.988C>T (p.Arg330Trp)	TSEN54 (R330W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620188	NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)	TSEN54 (K347*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 4 +3 more	GPathogenic/Likely pathogenic
Select item 2437386	NM_207346.3(TSEN54):c.1107_1112dup (p.Pro370_Glu371insAspPro)	TSEN54	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 498601	NM_207346.3(TSEN54):c.1120_1122delinsGGC (p.Arg374Gly)	TSEN54 (R374G)	Indel (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2690284	NM_207346.3(TSEN54):c.1121G>A (p.Arg374Gln)	TSEN54 (R374Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1323718	NM_207346.3(TSEN54):c.1431-2A>G	TSEN54	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2437387	NM_207346.3(TSEN54):c.1503C>G (p.Ile501Met)	TSEN54 (I501M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance