ClinVar for MedGen (Select 322781) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 972741	NM_001377458.1(CLCC1):c.75C>A (p.Asp25Glu)	CLCC1 (D25E)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 845469	NM_001377458.1(CLCC1):c.1600G>A (p.Ala534Thr)	CLCC1 (A484T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance