"Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic C - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2505268	NM_030665.4(RAI1):c.219_226del (p.Ala74fs)	RAI1 (A74fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 2723082	NM_030665.4(RAI1):c.232T>C (p.Tyr78His)	RAI1 (Y78H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 587997	NM_030665.4(RAI1):c.1615C>A (p.Pro539Thr)	RAI1 (P539T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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ClinVar