ClinVar for MedGen (Select 383084) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996741	NM_012233.3(RAB3GAP1):c.151-5T>G	RAB3GAP1	Single nucleotide variant (intron variant)	Developmental cataract +17 more	GPathogenic
Select item 977160	NM_014845.6(FIG4):c.1475G>C (p.Arg492Pro)	FIG4 (R492P)	Single nucleotide variant (missense variant)	Cerebral hypomyelination	GLikely pathogenic
Select item 267792	NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile)	TUBB4A (M439I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 242884	NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys)	RUBCN (E107K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242883	NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala)	RUBCN (T503A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 234659	NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del)	FIG4 (E813del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease type 4 +3 more	GConflicting classifications of pathogenicity

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