ClinVar for MedGen (Select 1806238) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571596	NM_024587.4(TMEM53):c.707_715dup (p.Arg238_Arg239insLeuAlaArg)	TMEM53	Duplication (inframe_insertion)	Craniotubular dysplasia, Ikegawa type	GUncertain significance
Select item 986738	NM_024587.4(TMEM53):c.62-5_62-3del	TMEM53	Deletion (intron variant)	TMEM53-related craniotubular dysplasia	GPathogenic
Select item 986737	NM_024587.4(TMEM53):c.219_222dup (p.Val75fs)	TMEM53 (V2fs +1 more)	Duplication (frameshift variant +2 more)	TMEM53-related craniotubular dysplasia	GPathogenic

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