"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982948	NM_030665.4(RAI1):c.707A>G (p.Tyr236Cys)	RAI1 (Y236C)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GLikely benign
Select item 976409	NM_030665.4(RAI1):c.859C>T (p.Gln287Ter)	RAI1 (Q287*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GLikely pathogenic
Select item 987497	NM_030665.4(RAI1):c.2396dup (p.Gly800fs)	RAI1 (G800fs)	Duplication (frameshift variant)	Smith-Magenis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 976208	NM_030665.4(RAI1):c.2594T>C (p.Leu865Pro)	RAI1 (L865P)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2578445	NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter)	RAI1 (S968*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GLikely pathogenic
Select item 982837	NM_030665.4(RAI1):c.4051G>T (p.Ala1351Ser)	RAI1 (A1351S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic

ClinVar