C0795864[trait identifier] AND "Diagnostic Laboratory, Department of G - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96183	NM_030665.4(RAI1):c.269G>C (p.Gly90Ala)	RAI1 (G90A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 96194	NM_030665.4(RAI1):c.493C>A (p.Pro165Thr)	RAI1 (P165T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 96196	NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)	RAI1 (P242L)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +4 more	GBenign/Likely benign
Select item 587783	NM_030665.4(RAI1):c.840del (p.Gln280fs)	RAI1 (Q280fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GBenign
Select item 403362	NM_030665.4(RAI1):c.840_843del (p.Gln280fs)	RAI1 (Q280fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GBenign
Select item 96179	NM_030665.4(RAI1):c.1992G>A (p.Pro664=)	RAI1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 96191	NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)	RAI1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 96195	NM_030665.4(RAI1):c.5601T>C (p.Ile1867=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign

ClinVar