"PreventionGenetics, part of Exact Sciences"[submitter] AND "RAI1"[gen - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 316

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 436491	NM_030665.4(RAI1):c.109G>A (p.Gly37Arg)	RAI1 (G37R)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +4 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 3032694	NM_030665.4(RAI1):c.213C>T (p.Ala71=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder	GLikely benign
Select item 212004	NM_030665.4(RAI1):c.214G>A (p.Ala72Thr)	RAI1 (A72T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 588756	NM_030665.4(RAI1):c.223G>T (p.Ala75Ser)	RAI1 (A75S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely 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 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 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 96182	NM_030665.4(RAI1):c.264G>A (p.Gln88=)	RAI1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 1286518	NM_030665.4(RAI1):c.284C>T (p.Pro95Leu)	RAI1 (P95L)	Single nucleotide variant (missense variant)	RAI1-related disorder +2 more	GBenign/Likely benign
Select item 588707	NM_030665.4(RAI1):c.285G>A (p.Pro95=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1564332	NM_030665.4(RAI1):c.300C>T (p.Tyr100=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1400904	NM_030665.4(RAI1):c.386C>G (p.Pro129Arg)	RAI1 (P129R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 436486	NM_030665.4(RAI1):c.387A>G (p.Pro129=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder +3 more	GLikely benign
Select item 1588258	NM_030665.4(RAI1):c.393G>A (p.Pro131=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1357278	NM_030665.4(RAI1):c.397C>T (p.Pro133Ser)	RAI1 (P133S)	Single nucleotide variant (missense variant)	RAI1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2010371	NM_030665.4(RAI1):c.453G>A (p.Val151=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 436490	NM_030665.4(RAI1):c.453G>C (p.Val151=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder +2 more	GLikely benign
Select item 3054870	NM_030665.4(RAI1):c.487del (p.Gln163fs)	RAI1 (Q163fs)	Deletion (frameshift variant)	RAI1-related disorder	GLikely pathogenic
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 517716	NM_030665.4(RAI1):c.516C>A (p.His172Gln)	RAI1 (H172Q)	Single nucleotide variant (missense variant)	not provided +2 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 +1 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 +1 more	GConflicting classifications of pathogenicity
Select item 588205	NM_030665.4(RAI1):c.531G>A (p.Pro177=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder +2 more	GBenign/Likely benign
Select item 3058608	NM_030665.4(RAI1):c.540G>A (p.Gln180=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder	GLikely benign
Select item 588858	NM_030665.4(RAI1):c.586G>A (p.Asp196Asn)	RAI1 (D196N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 130083	NM_030665.4(RAI1):c.610C>T (p.Pro204Ser)	RAI1 (P204S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2635556	NM_030665.4(RAI1):c.640C>T (p.Gln214Ter)	RAI1 (Q214*)	Single nucleotide variant (nonsense)	RAI1-related disorder	GPathogenic
Select item 589791	NM_030665.4(RAI1):c.645C>T (p.Ser215=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 196547	NM_030665.4(RAI1):c.660C>T (p.Ser220=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1624153	NM_030665.4(RAI1):c.666C>T (p.Tyr222=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1362719	NM_030665.4(RAI1):c.688G>A (p.Gly230Arg)	RAI1 (G230R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167554	NM_030665.4(RAI1):c.719C>T (p.Thr240Ile)	RAI1 (T240I)	Single nucleotide variant (missense variant)	RAI1-related disorder +2 more	GConflicting classifications of pathogenicity
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 2713536	NM_030665.4(RAI1):c.726G>A (p.Pro242=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder +1 more	GLikely benign
Select item 1389976	NM_030665.4(RAI1):c.751C>G (p.Leu251Val)	RAI1 (L251V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 599469	NM_030665.4(RAI1):c.757G>A (p.Ala253Thr)	RAI1 (A253T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1920456	NM_030665.4(RAI1):c.813G>C (p.Ser271=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder +1 more	GLikely benign
Select item 1442236	NM_030665.4(RAI1):c.834GCA[20] (p.Gln285_Gln291dup)	RAI1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1399005	NM_030665.4(RAI1):c.836_837insACAGCA (p.Gln290_Gln291dup)	RAI1	Insertion (inframe_insertion)	RAI1-related disorder +1 more	GUncertain significance
Select item 589308	NM_030665.4(RAI1):c.834GCA[15] (p.Gln290_Gln291dup)	RAI1	Microsatellite (inframe_insertion)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 212014	NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup)	RAI1	Microsatellite (inframe_insertion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1512341	NM_030665.4(RAI1):c.834GCA[5] (p.Gln284_Gln291del)	RAI1	Microsatellite (inframe_deletion)	RAI1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 588823	NM_030665.4(RAI1):c.834GCA[8] (p.Gln287_Gln291del)	RAI1	Microsatellite (inframe_deletion)	Inborn genetic diseases +2 more	GLikely benign
Select item 196559	NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del)	RAI1 (Q291del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +4 more	GBenign
Select item 196558	NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del)	RAI1	Microsatellite (inframe_deletion)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 130088	NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del)	RAI1	Microsatellite (inframe_deletion)	not specified +4 more	GBenign/Likely benign
Select item 96200	NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del)	RAI1	Microsatellite (inframe_deletion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1593726	NM_030665.4(RAI1):c.836_837insACA (p.Gln291dup)	RAI1	Insertion (inframe_insertion)	RAI1-related disorder +1 more	GBenign/Likely benign
Select item 96198	NM_030665.4(RAI1):c.837G>A (p.Gln279=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 3034686	NM_030665.4(RAI1):c.840_852del (p.Gln280fs)	RAI1 (Q280fs)	Deletion (frameshift variant)	RAI1-related disorder	GLikely benign
Select item 1174857	NM_030665.4(RAI1):c.840_849del (p.Gln280fs)	RAI1 (Q280fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2632177	NM_030665.4(RAI1):c.918A>T (p.Gln306His)	RAI1 (Q306H)	Single nucleotide variant (missense variant)	RAI1-related disorder	GUncertain significance
Select item 589609	NM_030665.4(RAI1):c.925G>A (p.Ala309Thr)	RAI1 (A309T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 96201	NM_030665.4(RAI1):c.972G>A (p.Pro324=)	RAI1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1289847	NM_030665.4(RAI1):c.982G>A (p.Val328Ile)	RAI1 (V328I)	Single nucleotide variant (missense variant)	RAI1-related disorder +2 more	GBenign/Likely benign
Select item 2544935	NM_030665.4(RAI1):c.986G>A (p.Arg329Gln)	RAI1 (R329Q)	Single nucleotide variant (missense variant)	RAI1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2633851	NM_030665.4(RAI1):c.1030C>T (p.His344Tyr)	RAI1 (H344Y)	Single nucleotide variant (missense variant)	RAI1-related disorder	GUncertain significance
Select item 96176	NM_030665.4(RAI1):c.1044C>T (p.Arg348=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1498485	NM_030665.4(RAI1):c.1048G>A (p.Val350Met)	RAI1 (V350M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1336950	NM_030665.4(RAI1):c.1054C>T (p.Arg352Cys)	RAI1 (R352C)	Single nucleotide variant (missense variant)	RAI1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2429579	NM_030665.4(RAI1):c.1063T>C (p.Ser355Pro)	RAI1 (S355P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1586509	NM_030665.4(RAI1):c.1086G>A (p.Pro362=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2499809	NM_030665.4(RAI1):c.1098C>G (p.Asn366Lys)	RAI1 (N366K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1727447	NM_030665.4(RAI1):c.1128G>A (p.Pro376=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 588431	NM_030665.4(RAI1):c.1134C>T (p.Ser378=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 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 1600388	NM_030665.4(RAI1):c.1150G>A (p.Ala384Thr)	RAI1 (A384T)	Single nucleotide variant (missense variant)	RAI1-related disorder +1 more	GBenign/Likely benign
Select item 1504360	NM_030665.4(RAI1):c.1202C>T (p.Thr401Met)	RAI1 (T401M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3030474	NM_030665.4(RAI1):c.1218T>C (p.Ser406=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder	GLikely benign
Select item 1409427	NM_030665.4(RAI1):c.1235G>A (p.Gly412Asp)	RAI1 (G412D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1574972	NM_030665.4(RAI1):c.1266C>T (p.Leu422=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1496967	NM_030665.4(RAI1):c.1273A>G (p.Asn425Asp)	RAI1 (N425D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1641951	NM_030665.4(RAI1):c.1308G>A (p.Thr436=)	RAI1	Single nucleotide variant (synonymous variant)	RAI1-related disorder +1 more	GLikely benign
Select item 588622	NM_030665.4(RAI1):c.1326G>A (p.Val442=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 2194778	NM_030665.4(RAI1):c.1450G>A (p.Glu484Lys)	RAI1 (E484K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1686774	NM_030665.4(RAI1):c.1487C>T (p.Pro496Leu)	RAI1 (P496L)	Single nucleotide variant (missense variant)	RAI1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 167557	NM_030665.4(RAI1):c.1488G>A (p.Pro496=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196531	NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu)	RAI1 (P500L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1569088	NM_030665.4(RAI1):c.1500G>T (p.Pro500=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 261934	NM_030665.4(RAI1):c.1500G>A (p.Pro500=)	RAI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 1577474	NM_030665.4(RAI1):c.1512G>A (p.Thr504=)	RAI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 212000	NM_030665.4(RAI1):c.1524G>A (p.Thr508=)	RAI1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 444402	NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg)	RAI1 (Q513R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2065050	NM_030665.4(RAI1):c.1558G>A (p.Gly520Ser)	RAI1 (G520S)	Single nucleotide variant (missense variant)	RAI1-related disorder +1 more	GLikely benign
Select item 2159002	NM_030665.4(RAI1):c.1579C>T (p.Arg527Cys)	RAI1 (R527C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 212001	NM_030665.4(RAI1):c.1580G>A (p.Arg527His)	RAI1 (R527H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 4