"GeneDx"[submitter] AND "RAI1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 60439	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	ALKBH5, ATPAF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 58694	GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3	ALKBH5, ATPAF2 +67 more	Copy number gain	See cases	GPathogenic
Select item 1345005	NM_030665.4(RAI1):c.-50G>A	RAI1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1342813	NM_030665.4(RAI1):c.-17+74G>T	RAI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261147	NM_030665.4(RAI1):c.-16-1486G>A	RAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1803408	NM_030665.4(RAI1):c.-4A>T	RAI1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1710652	NM_030665.4(RAI1):c.36C>T (p.Gly12=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1700394	NM_030665.4(RAI1):c.62C>T (p.Ser21Leu)	RAI1 (S21L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234029	NM_030665.4(RAI1):c.76C>T (p.Arg26Cys)	RAI1 (R26C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 624112	NM_030665.4(RAI1):c.96G>A (p.Gln32=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1313756	NM_030665.4(RAI1):c.136_144del (p.Leu46_Lys48del)	RAI1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 588788	NM_030665.4(RAI1):c.138C>T (p.Leu46=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 96178	NM_030665.4(RAI1):c.139G>A (p.Ala47Thr)	RAI1 (A47T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 817187	NM_030665.4(RAI1):c.182_185del (p.Gly61fs)	RAI1 (G61fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1175646	NM_030665.4(RAI1):c.187G>A (p.Ala63Thr)	RAI1 (A63T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2574265	NM_030665.4(RAI1):c.214G>T (p.Ala72Ser)	RAI1 (A72S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212004	NM_030665.4(RAI1):c.214G>A (p.Ala72Thr)	RAI1 (A72T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1204556	NM_030665.4(RAI1):c.216G>A (p.Ala72=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 588756	NM_030665.4(RAI1):c.223G>T (p.Ala75Ser)	RAI1 (A75S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1804465	NM_030665.4(RAI1):c.238C>T (p.Arg80Ter)	RAI1 (R80*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2663089	NM_030665.4(RAI1):c.241G>A (p.Gly81Ser)	RAI1 (G81S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96182	NM_030665.4(RAI1):c.264G>A (p.Gln88=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 96183	NM_030665.4(RAI1):c.269G>C (p.Gly90Ala)	RAI1 (G90A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 1286518	NM_030665.4(RAI1):c.284C>T (p.Pro95Leu)	RAI1 (P95L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign
Select item 588097	NM_030665.4(RAI1):c.301G>A (p.Gly101Ser)	RAI1 (G101S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 283213	NM_030665.4(RAI1):c.303C>T (p.Gly101=)	RAI1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1314656	NM_030665.4(RAI1):c.469T>C (p.Tyr157His)	RAI1 (Y157H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 3377951	NM_030665.4(RAI1):c.509C>T (p.Ser170Phe)	RAI1 (S170F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517716	NM_030665.4(RAI1):c.516C>A (p.His172Gln)	RAI1 (H172Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1215695	NM_030665.4(RAI1):c.517G>A (p.Val173Ile)	RAI1 (V173I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1200133	NM_030665.4(RAI1):c.530C>T (p.Pro177Leu)	RAI1 (P177L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 588205	NM_030665.4(RAI1):c.531G>A (p.Pro177=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1304227	NM_030665.4(RAI1):c.545C>T (p.Pro182Leu)	RAI1 (P182L)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1311149	NM_030665.4(RAI1):c.559A>G (p.Lys187Glu)	RAI1 (K187E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220243	NM_030665.4(RAI1):c.585C>T (p.Asn195=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 588858	NM_030665.4(RAI1):c.586G>A (p.Asp196Asn)	RAI1 (D196N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 130083	NM_030665.4(RAI1):c.610C>T (p.Pro204Ser)	RAI1 (P204S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1676911	NM_030665.4(RAI1):c.628C>A (p.Pro210Thr)	RAI1 (P210T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801989	NM_030665.4(RAI1):c.648C>G (p.Phe216Leu)	RAI1 (F216L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368389	NM_030665.4(RAI1):c.697G>A (p.Ala233Thr)	RAI1 (A233T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96196	NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)	RAI1 (P242L)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +3 more	GBenign/Likely benign
Select item 452261	NM_030665.4(RAI1):c.740A>C (p.His247Pro)	RAI1 (H247P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574505	NM_030665.4(RAI1):c.764C>G (p.Ser255Cys)	RAI1 (S255C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307113	NM_030665.4(RAI1):c.767G>A (p.Ser256Asn)	RAI1 (S256N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253478	NM_030665.4(RAI1):c.801T>G (p.His267Gln)	RAI1 (H267Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589308	NM_030665.4(RAI1):c.834GCA[15] (p.Gln290_Gln291dup)	RAI1	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 212014	NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup)	RAI1	Microsatellite (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 130086	NM_030665.4(RAI1):c.834GCA[14] (p.Gln291dup)	RAI1	Microsatellite (inframe_insertion)	not specified +2 more	GBenign
Select item 588823	NM_030665.4(RAI1):c.834GCA[8] (p.Gln287_Gln291del)	RAI1	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GLikely benign
Select item 212015	NM_030665.4(RAI1):c.834GCA[11] (p.Gln290_Gln291del)	RAI1	Microsatellite (inframe_deletion)	not specified +2 more	GBenign
Select item 196559	NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del)	RAI1 (Q291del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +3 more	GBenign
Select item 196558	NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del)	RAI1	Microsatellite (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 130088	NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del)	RAI1	Microsatellite (inframe_deletion)	History of neurodevelopmental disorder +3 more	GBenign/Likely benign
Select item 96200	NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del)	RAI1	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1190631	NM_030665.4(RAI1):c.837_849delinsA (p.Gln288_Gln291del)	RAI1	Indel (inframe_deletion)	not provided	GLikely benign
Select item 167555	NM_030665.4(RAI1):c.837_838del (p.Gln280fs)	RAI1 (Q280fs)	Deletion (frameshift variant)	not specified +2 more	GBenign
Select item 587783	NM_030665.4(RAI1):c.840del (p.Gln280fs)	RAI1 (Q280fs)	Deletion (frameshift variant)	not provided +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 96199	NM_030665.4(RAI1):c.840G>A (p.Gln280=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 283887	NM_030665.4(RAI1):c.849G>A (p.Gln283=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1199557	NM_030665.4(RAI1):c.855G>A (p.Gln285=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327891	NM_030665.4(RAI1):c.860_861del (p.Gln287fs)	RAI1 (Q287fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3371993	NM_030665.4(RAI1):c.949C>G (p.Gln317Glu)	RAI1 (Q317E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96201	NM_030665.4(RAI1):c.972G>A (p.Pro324=)	RAI1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1304891	NM_030665.4(RAI1):c.974A>G (p.Asp325Gly)	RAI1 (D325G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289847	NM_030665.4(RAI1):c.982G>A (p.Val328Ile)	RAI1 (V328I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 96176	NM_030665.4(RAI1):c.1044C>T (p.Arg348=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2429579	NM_030665.4(RAI1):c.1063T>C (p.Ser355Pro)	RAI1 (S355P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571893	NM_030665.4(RAI1):c.1085C>G (p.Pro362Arg)	RAI1 (P362R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499809	NM_030665.4(RAI1):c.1098C>G (p.Asn366Lys)	RAI1 (N366K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809953	NM_030665.4(RAI1):c.1107C>G (p.Asn369Lys)	RAI1 (N369K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430177	NM_030665.4(RAI1):c.1114dup (p.Tyr372fs)	RAI1 (Y372fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1301254	NM_030665.4(RAI1):c.1116C>T (p.Tyr372=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 588431	NM_030665.4(RAI1):c.1134C>T (p.Ser378=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 96177	NM_030665.4(RAI1):c.1142C>T (p.Ala381Val)	RAI1 (A381V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1304350	NM_030665.4(RAI1):c.1219G>T (p.Val407Leu)	RAI1 (V407L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211999	NM_030665.4(RAI1):c.1279C>T (p.Leu427=)	RAI1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1678676	NM_030665.4(RAI1):c.1288C>T (p.Leu430Phe)	RAI1 (L430F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200486	NM_030665.4(RAI1):c.1310C>G (p.Ala437Gly)	RAI1 (A437G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 588622	NM_030665.4(RAI1):c.1326G>A (p.Val442=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 620558	NM_030665.4(RAI1):c.1348C>T (p.Gln450Ter)	RAI1 (Q450*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1306454	NM_030665.4(RAI1):c.1413G>C (p.Arg471Ser)	RAI1 (R471S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499429	NM_030665.4(RAI1):c.1424A>G (p.Gln475Arg)	RAI1 (Q475R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1723705	NM_030665.4(RAI1):c.1481G>C (p.Gly494Ala)	RAI1 (G494A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686774	NM_030665.4(RAI1):c.1487C>T (p.Pro496Leu)	RAI1 (P496L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 261934	NM_030665.4(RAI1):c.1500G>A (p.Pro500=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 421678	NM_030665.4(RAI1):c.1507_1534dup (p.Pro512fs)	RAI1 (P512fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 212000	NM_030665.4(RAI1):c.1524G>A (p.Thr508=)	RAI1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 444402	NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg)	RAI1 (Q513R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1466364	NM_030665.4(RAI1):c.1574T>G (p.Leu525Arg)	RAI1 (L525R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200160	NM_030665.4(RAI1):c.1598A>G (p.Asn533Ser)	RAI1 (N533S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1313842	NM_030665.4(RAI1):c.1616C>T (p.Pro539Leu)	RAI1 (P539L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1312870	NM_030665.4(RAI1):c.1628A>C (p.Asn543Thr)	RAI1 (N543T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579562	NM_030665.4(RAI1):c.1646A>C (p.Lys549Thr)	RAI1 (K549T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196552	NM_030665.4(RAI1):c.1656C>T (p.Ser552=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 265668	NM_030665.4(RAI1):c.1690_1691del (p.Met564fs)	RAI1 (M564fs)	Deletion (frameshift variant)	not provided	GPathogenic

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