"Clinical Genetics, Academic Medical Center"[submitter] AND "TSEN54"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	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)	Pontocerebellar hypoplasia type 5 +5 more	GBenign
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 263291	NM_207346.3(TSEN54):c.222-18C>T	TSEN54	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 137755	NM_207346.3(TSEN54):c.285+3G>A	TSEN54	Single nucleotide variant (intron variant)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 137756	NM_207346.3(TSEN54):c.333C>G (p.Arg111=)	TSEN54	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia +2 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 137758	NM_207346.3(TSEN54):c.568G>A (p.Val190Met)	TSEN54 (V190M)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 160138	NM_207346.3(TSEN54):c.624-9G>A	TSEN54	Single nucleotide variant (intron variant)	Pontoneocerebellar hypoplasia +2 more	GBenign/Likely benign
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)	Pontoneocerebellar hypoplasia +5 more	GBenign
Select item 96672	NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro)	TSEN54 (Q389P)	Single nucleotide variant (missense variant)	not provided +2 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