ClinVar for MedGen (Select 44376) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375224	NM_000317.2(PTS):c.(?_-1)_(*1_?)del	PTS	Deletion	Metabolic disease	GLikely pathogenic
Select item 66873	NM_170707.4(LMNA):c.1892G>A (p.Gly631Asp)	LMNA (G601D +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance