"Baylor Genetics"[submitter] AND "RAI1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028898	NM_030665.4(RAI1):c.424G>T (p.Asp142Tyr)	RAI1 (D142Y)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 2230823	NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)	RAI1 (E923fs)	Deletion (frameshift variant)	Smith-Magenis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1032233	NM_030665.4(RAI1):c.2918C>G (p.Ala973Gly)	RAI1 (A973G)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 96184	NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)	RAI1 (G1070R)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1028897	NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser)	RAI1 (P1295S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032234	NM_030665.4(RAI1):c.4849C>T (p.Pro1617Ser)	RAI1 (P1617S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1028899	NM_030665.4(RAI1):c.4967C>G (p.Ser1656Cys)	RAI1 (S1656C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic

ClinVar