"Revvity Omics, Revvity"[submitter] AND "RAI1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 436491	NM_030665.4(RAI1):c.109G>A (p.Gly37Arg)	RAI1 (G37R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2435361	NM_030665.4(RAI1):c.274C>A (p.Gln92Lys)	RAI1 (Q92K)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 2435359	NM_030665.4(RAI1):c.1618G>T (p.Ala540Ser)	RAI1 (A540S)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GUncertain significance
Select item 2435358	NM_030665.4(RAI1):c.1777G>T (p.Asp593Tyr)	RAI1 (D593Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1208525	NM_030665.4(RAI1):c.2200G>A (p.Ala734Thr)	RAI1 (A734T)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 436498	NM_030665.4(RAI1):c.3146C>T (p.Ser1049Leu)	RAI1 (S1049L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1465426	NM_030665.4(RAI1):c.3401C>T (p.Pro1134Leu)	RAI1 (P1134L)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2435360	NM_030665.4(RAI1):c.4462A>G (p.Ser1488Gly)	RAI1 (S1488G)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome	GUncertain significance
Select item 2435362	NM_030665.4(RAI1):c.5407C>G (p.Arg1803Gly)	RAI1 (R1803G)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GUncertain significance