ClinVar for MedGen (Select 420956) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 21211.	TSEN54:c.[277T>C;919G>T] GRCh37: Chr17:73518081 Chr17:73513145 GRCh38: Chr17:75522000 Chr17:75517064	TSEN54, TSEN54	A307S, S93P	Pontocerebellar hypoplasia type 2A	Likely pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 21202.	NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) GRCh37: Chr17:73518081 GRCh38: Chr17:75522000	TSEN54	A307S	Inborn genetic diseases, not provided, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 5, Congenital cerebellar hypoplasia, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4, Olivopontocerebellar hypoplasia, TSEN54 Pontocerebellar HypoplasiaPontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5, Pontocerebellar hypoplasia type 4, Methylmalonic aciduria and homocystinuria type cblD, Pontocerebellar hypoplasia type 5, Pontocerebellar hypoplasia type 4, Intellectual disability, Microcephaly, Global developmental delay, Amblyopia, Hypertonia, Global developmental delay, ...see more	Pathogenic/Likely pathogenic (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts

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