ClinVar for MedGen (Select 420956) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2121	TSEN54:c.[277T>C;919G>T]	TSEN54 (A307S +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A	GLikely pathogenic
Select item 2120	NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	TSEN54 (A307S)	Single nucleotide variant (missense variant)	TSEN54 Pontocerebellar Hypoplasia +14 more	GPathogenic/Likely pathogenic