ClinVar for Gene (Select 10743) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068702	NM_030665.4(RAI1):c.600del (p.Leu201fs)	RAI1 (L201fs)	Deletion (frameshift variant)	Syndromic intellectual disability	GLikely pathogenic
Select item 3064971	NM_030665.4(RAI1):c.4523_4546del (p.Ser1508_Pro1515del)	RAI1	Deletion (inframe_deletion)	Smith-Magenis syndrome	GUncertain significance
Select item 3063524	GRCh37/hg19 17p11.2(chr17:16936031-17654594)x3	COPS3, FLCN +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3062317	NM_030665.4(RAI1):c.367dup (p.Ala123fs)	RAI1 (A123fs)	Duplication (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 3060274	NM_030665.4(RAI1):c.2415G>C (p.Ser805=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related condition	GLikely benign
Select item 3058608	NM_030665.4(RAI1):c.540G>A (p.Gln180=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related condition	GLikely benign
Select item 3054870	NM_030665.4(RAI1):c.487del (p.Gln163fs)	RAI1 (Q163fs)	Deletion (frameshift variant)	RAI1-related condition	GLikely pathogenic
Select item 3052161	NM_030665.4(RAI1):c.4035A>C (p.Ala1345=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related condition	GLikely benign
Select item 3045911	NM_030665.4(RAI1):c.120C>T (p.Cys40=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related condition	GLikely benign
Select item 3034686	NM_030665.4(RAI1):c.840_852del (p.Gln280fs)	RAI1 (Q280fs)	Deletion (frameshift variant)	RAI1-related condition	GLikely benign
Select item 3033844	NM_030665.4(RAI1):c.3690G>T (p.Ala1230=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related condition	GLikely benign
Select item 3033026	NM_030665.4(RAI1):c.3187C>T (p.Leu1063=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related condition	GLikely benign
Select item 3032694	NM_030665.4(RAI1):c.213C>T (p.Ala71=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related condition	GLikely benign
Select item 3031332	NM_030665.4(RAI1):c.2088G>A (p.Thr696=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related condition	GLikely benign
Select item 3031219	NM_030665.4(RAI1):c.3312G>A (p.Lys1104=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related condition	GLikely benign
Select item 3030709	NM_030665.4(RAI1):c.2502T>C (p.Ala834=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related condition	GLikely benign
Select item 3030474	NM_030665.4(RAI1):c.1218T>C (p.Ser406=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related condition	GLikely benign
Select item 3020914	NM_030665.4(RAI1):c.3945G>A (p.Lys1315=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3020875	NM_030665.4(RAI1):c.4981C>A (p.Arg1661=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019704	NM_030665.4(RAI1):c.903A>T (p.Glu301Asp)	RAI1 (E301D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018471	NM_030665.4(RAI1):c.4930G>A (p.Ala1644Thr)	RAI1 (A1644T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013848	NM_030665.4(RAI1):c.4230C>T (p.Gly1410=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013487	NM_030665.4(RAI1):c.2538C>T (p.Ser846=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013164	NM_030665.4(RAI1):c.1149C>T (p.Pro383=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012384	NM_030665.4(RAI1):c.797T>C (p.Leu266Pro)	RAI1 (L266P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3009442	NM_030665.4(RAI1):c.4129G>C (p.Gly1377Arg)	RAI1 (G1377R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009324	NM_030665.4(RAI1):c.2775C>T (p.Val925=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007918	NM_030665.4(RAI1):c.3924A>G (p.Ala1308=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005447	NM_030665.4(RAI1):c.5169G>A (p.Val1723=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003579	NM_030665.4(RAI1):c.3868A>G (p.Thr1290Ala)	RAI1 (T1290A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3002389	NM_030665.4(RAI1):c.3714C>G (p.Asn1238Lys)	RAI1 (N1238K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001369	NM_030665.4(RAI1):c.1899C>T (p.Val633=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998428	NM_030665.4(RAI1):c.2450G>A (p.Gly817Glu)	RAI1 (G817E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998208	NM_030665.4(RAI1):c.3391A>T (p.Thr1131Ser)	RAI1 (T1131S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995968	NM_030665.4(RAI1):c.1893C>T (p.Ser631=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995392	NM_030665.4(RAI1):c.5509C>A (p.Leu1837Met)	RAI1 (L1837M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994061	NM_030665.4(RAI1):c.2702AGG[6] (p.Glu903_Val904insGluGluGlu)	RAI1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2992539	NM_030665.4(RAI1):c.4674G>A (p.Lys1558=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991857	NM_030665.4(RAI1):c.4618C>G (p.Leu1540Val)	RAI1 (L1540V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991647	NM_030665.4(RAI1):c.3725G>C (p.Arg1242Pro)	RAI1 (R1242P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991537	NM_030665.4(RAI1):c.4693G>C (p.Val1565Leu)	RAI1 (V1565L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991511	NM_030665.4(RAI1):c.1115A>G (p.Tyr372Cys)	RAI1 (Y372C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991510	NM_030665.4(RAI1):c.4673A>G (p.Lys1558Arg)	RAI1 (K1558R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991166	NM_030665.4(RAI1):c.1567G>T (p.Asp523Tyr)	RAI1 (D523Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2991123	NM_030665.4(RAI1):c.1224C>T (p.Asp408=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987698	NM_030665.4(RAI1):c.5321G>A (p.Arg1774Gln)	RAI1 (R1774Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2985703	NM_030665.4(RAI1):c.291C>T (p.Phe97=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985582	NM_030665.4(RAI1):c.2155C>T (p.Pro719Ser)	RAI1 (P719S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985002	NM_030665.4(RAI1):c.4367A>G (p.His1456Arg)	RAI1 (H1456R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983167	NM_030665.4(RAI1):c.2091T>G (p.Pro697=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982733	NM_030665.4(RAI1):c.3749A>G (p.Asn1250Ser)	RAI1 (N1250S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2982449	NM_030665.4(RAI1):c.1691T>C (p.Met564Thr)	RAI1 (M564T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980199	NM_030665.4(RAI1):c.4519G>T (p.Ala1507Ser)	RAI1 (A1507S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978131	NM_030665.4(RAI1):c.3204G>A (p.Thr1068=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977627	NM_030665.4(RAI1):c.4321G>T (p.Ala1441Ser)	RAI1 (A1441S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975434	NM_030665.4(RAI1):c.2658C>A (p.Gly886=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972756	NM_030665.4(RAI1):c.276G>T (p.Gln92His)	RAI1 (Q92H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972278	NM_030665.4(RAI1):c.4313G>T (p.Gly1438Val)	RAI1 (G1438V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969719	NM_030665.4(RAI1):c.5331C>G (p.Ser1777=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969378	NM_030665.4(RAI1):c.5163G>A (p.Glu1721=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2967167	NM_030665.4(RAI1):c.84G>A (p.Glu28=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966464	NM_030665.4(RAI1):c.3609A>G (p.Ala1203=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966021	NM_030665.4(RAI1):c.737C>T (p.Pro246Leu)	RAI1 (P246L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2963978	NM_030665.4(RAI1):c.2811G>A (p.Lys937=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961129	NM_030665.4(RAI1):c.4762T>G (p.Ser1588Ala)	RAI1 (S1588A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960653	NM_030665.4(RAI1):c.668C>A (p.Ser223Tyr)	RAI1 (S223Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2960466	NM_030665.4(RAI1):c.3097C>T (p.Pro1033Ser)	RAI1 (P1033S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2959935	NM_030665.4(RAI1):c.4018A>G (p.Ser1340Gly)	RAI1 (S1340G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959467	NM_030665.4(RAI1):c.958G>A (p.Gly320Ser)	RAI1 (G320S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958456	NM_030665.4(RAI1):c.145G>A (p.Asp49Asn)	RAI1 (D49N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2958395	NM_030665.4(RAI1):c.705C>T (p.Ser235=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957917	NM_030665.4(RAI1):c.5082C>G (p.Ala1694=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957424	NM_030665.4(RAI1):c.3795T>A (p.Gly1265=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957167	NM_030665.4(RAI1):c.138C>A (p.Leu46=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957014	NM_030665.4(RAI1):c.4282G>A (p.Ala1428Thr)	RAI1 (A1428T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956962	NM_030665.4(RAI1):c.1804C>G (p.Leu602Val)	RAI1 (L602V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956350	NM_030665.4(RAI1):c.2159A>T (p.Asp720Val)	RAI1 (D720V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2956312	NM_030665.4(RAI1):c.4129G>T (p.Gly1377Trp)	RAI1 (G1377W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920239	NM_030665.4(RAI1):c.2784G>A (p.Leu928=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920046	NM_030665.4(RAI1):c.3977G>T (p.Gly1326Val)	RAI1 (G1326V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919541	NM_030665.4(RAI1):c.3205C>T (p.Pro1069Ser)	RAI1 (P1069S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918966	NM_030665.4(RAI1):c.3498C>A (p.Gly1166=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918691	NM_030665.4(RAI1):c.1370C>T (p.Ala457Val)	RAI1 (A457V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917963	NM_030665.4(RAI1):c.3548T>C (p.Leu1183Ser)	RAI1 (L1183S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917139	NM_030665.4(RAI1):c.4170G>C (p.Lys1390Asn)	RAI1 (K1390N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916938	NM_030665.4(RAI1):c.3692C>G (p.Pro1231Arg)	RAI1 (P1231R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916381	NM_030665.4(RAI1):c.4916C>T (p.Ser1639Leu)	RAI1 (S1639L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916361	NM_030665.4(RAI1):c.5019G>A (p.Gly1673=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914839	NM_030665.4(RAI1):c.4677A>G (p.Arg1559=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914435	NM_030665.4(RAI1):c.2088G>T (p.Thr696=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913333	NM_030665.4(RAI1):c.3600C>G (p.Ser1200Arg)	RAI1 (S1200R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913115	NM_030665.4(RAI1):c.5710-13G>A	RAI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912960	NM_030665.4(RAI1):c.4144C>G (p.Leu1382Val)	RAI1 (L1382V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912815	NM_030665.4(RAI1):c.920A>G (p.Asn307Ser)	RAI1 (N307S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912667	NM_030665.4(RAI1):c.2637C>T (p.Gly879=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910996	NM_030665.4(RAI1):c.3731GCA[5] (p.Ser1249del)	RAI1 (S1249del)	Microsatellite (inframe_deletion)	RAI1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2910332	NM_030665.4(RAI1):c.3854A>G (p.Asn1285Ser)	RAI1 (N1285S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910262	NM_030665.4(RAI1):c.5659+5G>A	RAI1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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