"MGZ Medical Genetics Center"[submitter] AND "TSPEAR"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593867	NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser)	TSPEAR (G475S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 403572	NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)	TSPEAR (R197* +1 more)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis +5 more	GConflicting classifications of pathogenicity