"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930437	NM_030665.4(RAI1):c.619A>T (p.Thr207Ser)	RAI1 (T207S)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 930911	NM_030665.4(RAI1):c.1888C>G (p.Pro630Ala)	RAI1 (P630A)	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)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 930630	NM_030665.4(RAI1):c.3760A>G (p.Asn1254Asp)	RAI1 (N1254D)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GLikely benign
Select item 96187	NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)	RAI1 (E1261del)	Microsatellite (inframe_deletion)	Smith-Magenis syndrome +4 more	GBenign/Likely benign
Select item 523258	GRCh37/hg19 17p11.2(chr17:16936603-18184130)	ALKBH5, MIEF2 +20 more	Copy number loss	Brachydactyly +14 more	GPathogenic
Select item 523257	GRCh37/hg19 17p11.2(chr17:16842163-20217777)	COPS3, DRC3 +47 more	Copy number gain	Delayed gross motor development +3 more	GPathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic

ClinVar