ClinVar for MedGen (Select 895657) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 709009	NM_058163.3(TSR2):c.234T>C (p.Asp78=)	TSR2	Single nucleotide variant (synonymous variant +1 more)	TSR2-related disorder +2 more	GBenign/Likely benign
Select item 187847	NM_058163.3(TSR2):c.191A>G (p.Glu64Gly)	TSR2 (E64G)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	GPathogenic