ClinVar for MedGen (Select 1824055) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443708	NM_015110.4(SMC5):c.2968C>G (p.His990Asp)	SMC5	Single nucleotide variant (missense variant)	Atelis syndrome 2	GPathogenic
Select item 2443707	NM_015110.4(SMC5):c.1273C>T (p.Arg425Ter)	SMC5	Single nucleotide variant (nonsense)	Atelis syndrome 2	GPathogenic
Select item 2443706	NM_015110.4(SMC5):c.1110GAG[1] (p.Arg372del)	SMC5 (R372del)	Microsatellite (inframe_deletion)	Atelis syndrome 2	GPathogenic

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