ClinVar for MedGen (Select 382614) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977509	NM_006899.5(IDH3B):c.857G>A (p.Gly286Glu)	IDH3B (G286E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 596485	NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter)	IDH3B (R12*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 46 +1 more	GConflicting classifications of pathogenicity
Select item 338028	NM_006899.5(IDH3B):c.118-3G>C	IDH3B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 338012	NM_006899.5(IDH3B):c.1115TCA[1] (p.Ile373del)	IDH3B (I373del)	Microsatellite (inframe_deletion +2 more)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 5506	NM_006899.5(IDH3B):c.395T>C (p.Leu132Pro)	IDH3B (L132P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 5505	NM_006899.5(IDH3B):c.589del (p.Ile197fs)	IDH3B (I197fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 46	GPathogenic

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