RAI1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1377204	NM_030665.4(RAI1):c.5A>G (p.Gln2Arg)	RAI1 (Q2R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2743788	NM_030665.4(RAI1):c.7T>G (p.Ser3Ala)	RAI1 (S3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 436485	NM_030665.4(RAI1):c.12T>C (p.Phe4=)	RAI1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1679394	NM_030665.4(RAI1):c.13C>T (p.Arg5Ter)	RAI1 (R5*)	Single nucleotide variant (nonsense)	Smith-Magenis syndrome	GLikely pathogenic
Select item 2540763	NM_030665.4(RAI1):c.14G>A (p.Arg5Gln)	RAI1 (R5Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1649158	NM_030665.4(RAI1):c.15A>C (p.Arg5=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571303	NM_030665.4(RAI1):c.15A>G (p.Arg5=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816799	NM_030665.4(RAI1):c.21G>A (p.Arg7=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1460665	NM_030665.4(RAI1):c.23G>A (p.Cys8Tyr)	RAI1 (C8Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499006	NM_030665.4(RAI1):c.31C>T (p.His11Tyr)	RAI1 (H11Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769744	NM_030665.4(RAI1):c.34G>T (p.Gly12Cys)	RAI1 (G12C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525400	NM_030665.4(RAI1):c.35G>A (p.Gly12Asp)	RAI1 (G12D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2868682	NM_030665.4(RAI1):c.63G>T (p.Ser21=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645063	NM_030665.4(RAI1):c.63G>A (p.Ser21=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2054101	NM_030665.4(RAI1):c.64C>A (p.Gln22Lys)	RAI1 (Q22K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1560497	NM_030665.4(RAI1):c.73T>A (p.Ser25Thr)	RAI1 (S25T)	Single nucleotide variant (missense variant)	RAI1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1585634	NM_030665.4(RAI1):c.75A>G (p.Ser25=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1234029	NM_030665.4(RAI1):c.76C>T (p.Arg26Cys)	RAI1 (R26C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3151206	NM_030665.4(RAI1):c.77G>A (p.Arg26His)	RAI1 (R26H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2717424	NM_030665.4(RAI1):c.77G>T (p.Arg26Leu)	RAI1 (R26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567073	NM_030665.4(RAI1):c.81A>G (p.Leu27=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	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 2140002	NM_030665.4(RAI1):c.87T>C (p.Asn29=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662646	NM_030665.4(RAI1):c.90C>T (p.Tyr30=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624112	NM_030665.4(RAI1):c.96G>A (p.Gln32=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1373332	NM_030665.4(RAI1):c.98C>T (p.Pro33Leu)	RAI1 (P33L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1673529	NM_030665.4(RAI1):c.99G>A (p.Pro33=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder +1 more	GLikely benign
Select item 1647260	NM_030665.4(RAI1):c.101G>A (p.Ser34Asn)	RAI1 (S34N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1548826	NM_030665.4(RAI1):c.108C>T (p.Ala36=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436491	NM_030665.4(RAI1):c.109G>A (p.Gly37Arg)	RAI1 (G37R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1475952	NM_030665.4(RAI1):c.116G>T (p.Ser39Ile)	RAI1 (S39I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724166	NM_030665.4(RAI1):c.118T>G (p.Cys40Gly)	RAI1 (C40G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3045911	NM_030665.4(RAI1):c.120C>T (p.Cys40=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder	GLikely benign
Select item 2802888	NM_030665.4(RAI1):c.121G>A (p.Asp41Asn)	RAI1 (D41N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083834	NM_030665.4(RAI1):c.124C>T (p.Arg42Trp)	RAI1 (R42W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494799	NM_030665.4(RAI1):c.125G>A (p.Arg42Gln)	RAI1 (R42Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1582346	NM_030665.4(RAI1):c.129G>A (p.Gln43=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1619928	NM_030665.4(RAI1):c.130C>T (p.Arg44Trp)	RAI1 (R44W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1769871	NM_030665.4(RAI1):c.131G>A (p.Arg44Gln)	RAI1 (R44Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2703971	NM_030665.4(RAI1):c.133C>A (p.Leu45Met)	RAI1 (L45M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892749	NM_030665.4(RAI1):c.135G>C (p.Leu45=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1313756	NM_030665.4(RAI1):c.136_144del (p.Leu46_Lys48del)	RAI1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2957167	NM_030665.4(RAI1):c.138C>A (p.Leu46=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 588788	NM_030665.4(RAI1):c.138C>T (p.Leu46=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 96178	NM_030665.4(RAI1):c.139G>A (p.Ala47Thr)	RAI1 (A47T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2958456	NM_030665.4(RAI1):c.145G>A (p.Asp49Asn)	RAI1 (D49N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1715809	NM_030665.4(RAI1):c.145G>T (p.Asp49Tyr)	RAI1 (D49Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1487227	NM_030665.4(RAI1):c.149A>G (p.Tyr50Cys)	RAI1 (Y50C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1653080	NM_030665.4(RAI1):c.150T>C (p.Tyr50=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986016	NM_030665.4(RAI1):c.153T>A (p.Tyr51Ter)	RAI1 (Y51*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2112316	NM_030665.4(RAI1):c.156C>T (p.Asn52=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601383	NM_030665.4(RAI1):c.158C>T (p.Pro53Leu)	RAI1 (P53L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1584313	NM_030665.4(RAI1):c.159G>A (p.Pro53=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096551	NM_030665.4(RAI1):c.161A>C (p.Gln54Pro)	RAI1 (Q54P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413285	NM_030665.4(RAI1):c.168C>T (p.Tyr56=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947841	NM_030665.4(RAI1):c.170C>T (p.Pro57Leu)	RAI1 (P57L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2801905	NM_030665.4(RAI1):c.171G>C (p.Pro57=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2731869	NM_030665.4(RAI1):c.171G>A (p.Pro57=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486178	NM_030665.4(RAI1):c.173G>C (p.Ser58Thr)	RAI1 (S58T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1690710	NM_030665.4(RAI1):c.176A>G (p.Tyr59Cys)	RAI1 (Y59C)	Single nucleotide variant (missense variant)	Developmental disorder +2 more	GConflicting classifications of pathogenicity
Select item 817187	NM_030665.4(RAI1):c.182_185del (p.Gly61fs)	RAI1 (G61fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2732640	NM_030665.4(RAI1):c.186C>A (p.Gly62=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1554473	NM_030665.4(RAI1):c.186C>T (p.Gly62=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder +2 more	GLikely benign
Select item 1175646	NM_030665.4(RAI1):c.187G>A (p.Ala63Thr)	RAI1 (A63T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2086549	NM_030665.4(RAI1):c.190G>C (p.Gly64Arg)	RAI1 (G64R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041177	NM_030665.4(RAI1):c.194C>T (p.Thr65Met)	RAI1 (T65M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1910078	NM_030665.4(RAI1):c.195G>C (p.Thr65=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 290041	NM_030665.4(RAI1):c.195G>A (p.Thr65=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1471070	NM_030665.4(RAI1):c.199T>C (p.Ser67Pro)	RAI1 (S67P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2418229	NM_030665.4(RAI1):c.206C>G (p.Thr69Ser)	RAI1 (T69S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1585781	NM_030665.4(RAI1):c.210A>G (p.Ala70=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3032694	NM_030665.4(RAI1):c.213C>T (p.Ala71=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder	GLikely 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)	Inborn genetic diseases +3 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 2505268	NM_030665.4(RAI1):c.219_226del (p.Ala74fs)	RAI1 (A74fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 1788073	NM_030665.4(RAI1):c.222C>T (p.Ala74=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1348232	NM_030665.4(RAI1):c.223G>A (p.Ala75Thr)	RAI1 (A75T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 588756	NM_030665.4(RAI1):c.223G>T (p.Ala75Ser)	RAI1 (A75S)	Single nucleotide variant (missense variant)	RAI1-related disorder +2 more	GBenign/Likely benign
Select item 1598347	NM_030665.4(RAI1):c.225C>T (p.Ala75=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424304	NM_030665.4(RAI1):c.226_228del (p.Asp76del)	RAI1 (D76del)	Deletion (inframe_deletion)	RAI1-related disorder +1 more	GLikely benign
Select item 1098707	NM_030665.4(RAI1):c.226G>A (p.Asp76Asn)	RAI1 (D76N)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +1 more	GUncertain significance
Select item 1668312	NM_030665.4(RAI1):c.228C>T (p.Asp76=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420010	NM_030665.4(RAI1):c.231G>A (p.Lys77=)	RAI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723082	NM_030665.4(RAI1):c.232T>C (p.Tyr78His)	RAI1 (Y78H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1490060	NM_030665.4(RAI1):c.236A>G (p.His79Arg)	RAI1 (H79R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1804465	NM_030665.4(RAI1):c.238C>T (p.Arg80Ter)	RAI1 (R80*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1342605	NM_030665.4(RAI1):c.239G>A (p.Arg80Gln)	RAI1 (R80Q)	Single nucleotide variant (missense variant)	RAI1-related disorder +3 more	GConflicting classifications of pathogenicity
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 2952	NM_030665.4(RAI1):c.253_271del (p.Leu85fs)	RAI1 (L85fs)	Deletion (frameshift variant)	Smith-Magenis syndrome	GPathogenic
Select item 2005509	NM_030665.4(RAI1):c.247A>G (p.Lys83Glu)	RAI1 (K83E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731451	NM_030665.4(RAI1):c.252C>T (p.Ala84=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder +1 more	GLikely benign
Select item 1940762	NM_030665.4(RAI1):c.256C>T (p.Pro86Ser)	RAI1 (P86S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000269	NM_030665.4(RAI1):c.259A>T (p.Thr87Ser)	RAI1 (T87S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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