"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96671	NM_207346.3(TSEN54):c.114T>G (p.His38Gln)	TSEN54 (H38Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 160133	NM_207346.3(TSEN54):c.285+32C>A	TSEN54	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 4 +4 more	GBenign
Select item 137757	NM_207346.3(TSEN54):c.370-19C>A	TSEN54	Single nucleotide variant (intron variant)	not specified +1 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 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 160123	NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)	TSEN54 (K347N)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +5 more	GBenign
Select item 160124	NM_207346.3(TSEN54):c.1114G>A (p.Val372Met)	TSEN54 (V372M)	Single nucleotide variant (missense variant)	Olivopontocerebellar hypoplasia +3 more	GConflicting classifications of pathogenicity
Select item 96670	NM_207346.3(TSEN54):c.1122G>C (p.Arg374=)	TSEN54	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia +5 more	GBenign
Select item 160127	NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val)	TSEN54 (A437V)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +5 more	GBenign
Select item 137759	NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)	TSEN54 (P483A)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +5 more	GBenign