AFF2[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 297

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1796176	NM_002025.4(AFF2):c.27C>T (p.Asp9=)	AFF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2578208	NM_002025.4(AFF2):c.31G>A (p.Asp11Asn)	AFF2 (D11N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210101	NM_002025.4(AFF2):c.47+16T>C	AFF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1679659	NM_002025.4(AFF2):c.48-60738G>C	AFF2	Single nucleotide variant (intron variant)	FRAXE	GUncertain significance
Select item 286419	NM_002025.4(AFF2):c.64C>T (p.Arg22Cys)	AFF2 (R22C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521344	NM_002025.4(AFF2):c.76A>T (p.Lys26Ter)	AFF2 (K26*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2286468	NM_002025.4(AFF2):c.114G>T (p.Gln38His)	AFF2 (Q38H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312930	NM_002025.4(AFF2):c.148C>A (p.Leu50Ile)	AFF2 (L50I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503183	NM_002025.4(AFF2):c.164A>G (p.Tyr55Cys)	AFF2 (Y55C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449173	NM_002025.4(AFF2):c.178T>C (p.Tyr60His)	AFF2 (Y60H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 975323	NM_002025.4(AFF2):c.179A>G (p.Tyr60Cys)	AFF2 (Y60C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 196336	NM_002025.4(AFF2):c.181-6T>C	AFF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 384331	NM_002025.4(AFF2):c.199C>T (p.Leu67Phe)	AFF2 (L67F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580764	NM_002025.4(AFF2):c.230A>T (p.Asn77Ile)	AFF2 (N73I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 520708	NM_002025.4(AFF2):c.233A>G (p.Tyr78Cys)	AFF2 (Y78C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2661598	NM_002025.4(AFF2):c.234T>C (p.Tyr78=)	AFF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809885	NM_002025.4(AFF2):c.243G>T (p.Met81Ile)	AFF2 (M77I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2608911	NM_002025.4(AFF2):c.251T>C (p.Leu84Ser)	AFF2 (L80S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1304446	NM_002025.4(AFF2):c.256A>C (p.Thr86Pro)	AFF2 (T82P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985050	NM_002025.4(AFF2):c.263A>G (p.His88Arg)	AFF2 (H84R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 210099	NM_002025.4(AFF2):c.292C>A (p.Pro98Thr)	AFF2 (P98T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728558	NM_002025.4(AFF2):c.294A>G (p.Pro98=)	AFF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336054	NM_002025.4(AFF2):c.303T>C (p.Ser101=)	AFF2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2608725	NM_002025.4(AFF2):c.317C>T (p.Pro106Leu)	AFF2 (P106L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 390056	NM_002025.4(AFF2):c.340T>C (p.Phe114Leu)	AFF2 (F114L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305523	NM_002025.4(AFF2):c.359A>G (p.Asn120Ser)	AFF2 (N116S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3092465	NM_002025.4(AFF2):c.407T>C (p.Met136Thr)	AFF2 (M132T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 807828	NM_002025.4(AFF2):c.407T>A (p.Met136Lys)	AFF2 (M136K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507318	NM_002025.4(AFF2):c.410C>T (p.Pro137Leu)	AFF2 (P133L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438906	NM_002025.4(AFF2):c.412C>G (p.Pro138Ala)	AFF2 (P134A +1 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 1312972	NM_002025.4(AFF2):c.443T>G (p.Leu148Arg)	AFF2 (L144R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704055	NM_002025.4(AFF2):c.449A>G (p.His150Arg)	AFF2 (H146R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3092467	NM_002025.4(AFF2):c.475T>A (p.Trp159Arg)	AFF2 (W159R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340563	NM_002025.4(AFF2):c.475T>C (p.Trp159Arg)	AFF2 (W155R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 382520	NM_002025.4(AFF2):c.481C>A (p.Arg161Ser)	AFF2 (R161S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1744198	NM_002025.4(AFF2):c.492T>C (p.His164=)	AFF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 128285	NM_002025.4(AFF2):c.493A>G (p.Asn165Asp)	AFF2 (N165D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 196335	NM_002025.4(AFF2):c.495C>A (p.Asn165Lys)	AFF2 (N165K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 166657	NM_002025.4(AFF2):c.496C>T (p.Pro166Ser)	AFF2 (P166S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3092474	NM_002025.4(AFF2):c.511G>A (p.Ala171Thr)	AFF2 (A167T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438904	NM_002025.4(AFF2):c.511G>T (p.Ala171Ser)	AFF2 (A167S +1 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2412939	NM_002025.4(AFF2):c.511G>C (p.Ala171Pro)	AFF2 (A167P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3092477	NM_002025.4(AFF2):c.542T>C (p.Met181Thr)	AFF2 (M177T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 434096	NM_002025.4(AFF2):c.561C>A (p.Asp187Glu)	AFF2 (D187E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 380611	NM_002025.4(AFF2):c.566C>T (p.Ser189Phe)	AFF2 (S189F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619624	NM_002025.4(AFF2):c.613C>A (p.Gln205Lys)	AFF2 (Q201K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503246	NM_002025.4(AFF2):c.670T>A (p.Ser224Thr)	AFF2 (S220T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210102	NM_002025.4(AFF2):c.733G>A (p.Ala245Thr)	AFF2 (A245T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 284703	NM_002025.4(AFF2):c.781C>T (p.Pro261Ser)	AFF2 (P261S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710673	NM_002025.4(AFF2):c.791G>T (p.Gly264Val)	AFF2 (G260V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314501	NM_002025.4(AFF2):c.803A>G (p.Gln268Arg)	AFF2 (Q264R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502684	NM_002025.4(AFF2):c.811C>T (p.Pro271Ser)	AFF2 (P267S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573028	NM_002025.4(AFF2):c.853C>A (p.Pro285Thr)	AFF2 (P281T +1 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2661599	NM_002025.4(AFF2):c.864C>T (p.Tyr288=)	AFF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3274509	NM_002025.4(AFF2):c.865G>A (p.Val289Ile)	AFF2 (V285I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047582	NM_002025.4(AFF2):c.891G>A (p.Gln297=)	AFF2	Single nucleotide variant (synonymous variant)	AFF2-related disorder	GLikely benign
Select item 382253	NM_002025.4(AFF2):c.896C>T (p.Pro299Leu)	AFF2 (P299L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 376872	NM_002025.4(AFF2):c.926T>C (p.Ile309Thr)	AFF2 (I309T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573888	NM_002025.4(AFF2):c.982C>G (p.Pro328Ala)	AFF2 (P324A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3274567	NM_002025.4(AFF2):c.1007A>G (p.Lys336Arg)	AFF2 (K332R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431756	NM_002025.4(AFF2):c.1012C>A (p.Pro338Thr)	AFF2 (P334T +1 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 1319208	NM_002025.4(AFF2):c.1016A>T (p.Lys339Met)	AFF2 (K335M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661600	NM_002025.4(AFF2):c.1034C>A (p.Thr345Lys)	AFF2 (T341K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1336318	NM_002025.4(AFF2):c.1034C>T (p.Thr345Ile)	AFF2 (T341I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2661601	NM_002025.4(AFF2):c.1041+56413A>G	AFF2 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2661602	NM_002025.4(AFF2):c.1041+56438C>T	AFF2 (A9V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2632526	NM_002025.4(AFF2):c.1041+56452_1041+56454del	AFF2 (F14del)	Microsatellite (inframe_deletion +1 more)	AFF2-related disorder	GUncertain significance
Select item 1188905	NM_002025.4(AFF2):c.1041+56456A>G	AFF2 (K15R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 512417	NM_002025.4(AFF2):c.1042-5T>G	AFF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1190418	NM_002025.4(AFF2):c.1045A>G (p.Ser349Gly)	AFF2 (S19G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346315	NM_002025.4(AFF2):c.1078A>G (p.Ile360Val)	AFF2 (I30V +2 more)	Single nucleotide variant (missense variant)	AFF2-related disorder	GUncertain significance
Select item 283357	NM_002025.4(AFF2):c.1097A>G (p.His366Arg)	AFF2 (H366R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 423323	NM_002025.4(AFF2):c.1114C>T (p.Leu372Phe)	AFF2 (L372F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3092356	NM_002025.4(AFF2):c.1117A>T (p.Thr373Ser)	AFF2 (T373S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 128279	NM_002025.4(AFF2):c.1118C>G (p.Thr373Ser)	AFF2 (T373S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 197738	NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr)	AFF2 (S374Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1304144	NM_002025.4(AFF2):c.1129A>G (p.Thr377Ala)	AFF2 (T373A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 210098	NM_002025.4(AFF2):c.1133C>G (p.Ala378Gly)	AFF2 (A378G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2661603	NM_002025.4(AFF2):c.1160C>A (p.Ser387Tyr)	AFF2 (S383Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2216410	NM_002025.4(AFF2):c.1169G>C (p.Gly390Ala)	AFF2 (G386A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 489209	NM_002025.4(AFF2):c.1173G>A (p.Gln391=)	AFF2	Single nucleotide variant (synonymous variant +1 more)	FRAXE +1 more	GUncertain significance
Select item 986210	NM_002025.4(AFF2):c.1210+1G>A	AFF2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1308930	NM_002025.4(AFF2):c.1210+4A>G	AFF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2504499	NM_002025.4(AFF2):c.1228A>G (p.Thr410Ala)	AFF2 (T377A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 838059	NM_002025.4(AFF2):c.1238C>T (p.Ser413Phe)	AFF2 (S409F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582030	NM_002025.4(AFF2):c.1256T>C (p.Phe419Ser)	AFF2 (F386S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2664656	NM_002025.4(AFF2):c.1262+1G>A	AFF2	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 285569	NM_002025.4(AFF2):c.1262+1G>C	AFF2	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 387381	NM_002025.4(AFF2):c.1262+6T>C	AFF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1061653	NM_002025.4(AFF2):c.1285C>G (p.Leu429Val)	AFF2 (L390V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3033268	NM_002025.4(AFF2):c.1287G>T (p.Leu429=)	AFF2	Single nucleotide variant (synonymous variant)	AFF2-related disorder	GLikely benign
Select item 2438907	NM_002025.4(AFF2):c.1292G>A (p.Ser431Asn)	AFF2 (S392N +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2446606	NM_002025.4(AFF2):c.1309G>C (p.Glu437Gln)	AFF2 (E398Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2537940	NM_002025.4(AFF2):c.1330A>G (p.Thr444Ala)	AFF2 (T405A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 772438	NM_002025.4(AFF2):c.1353C>G (p.Leu451=)	AFF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2284330	NM_002025.4(AFF2):c.1397+5G>A	AFF2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 711150	NM_002025.4(AFF2):c.1398-10T>G	AFF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 723230	NM_002025.4(AFF2):c.1404C>T (p.Pro468=)	AFF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3274557	NM_002025.4(AFF2):c.1415C>G (p.Pro472Arg)	AFF2 (P437R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 282367	NM_002025.4(AFF2):c.1424C>G (p.Pro475Arg)	AFF2 (P475R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3