3899[Gene ID] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 198

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 60183	GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1	AFF3, C2orf15 +56 more	Copy number loss	See cases	GPathogenic
Select item 147769	GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3	AFF3, CHST10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 3352584	NM_001386135.1(AFF3):c.3557G>A (p.Arg1186Gln)	AFF3 (R1186Q +1 more)	Single nucleotide variant (missense variant)	AFF3-related disorder	GLikely benign
Select item 1878250	NM_001386135.1(AFF3):c.3544G>A (p.Ala1182Thr)	AFF3 (A1182T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040901	NM_001386135.1(AFF3):c.3516C>T (p.Tyr1172=)	AFF3	Single nucleotide variant (synonymous variant)	AFF3-related disorder	GLikely benign
Select item 2651182	NM_001386135.1(AFF3):c.3474G>A (p.Ala1158=)	AFF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2273993	NM_001386135.1(AFF3):c.3440T>A (p.Ile1147Asn)	AFF3 (I1147N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2507660	NM_001386135.1(AFF3):c.3415G>A (p.Ala1139Thr)	AFF3 (A1164T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2594416	NM_001386135.1(AFF3):c.3388G>A (p.Val1130Met)	AFF3 (V1130M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092625	NM_001386135.1(AFF3):c.3367A>C (p.Asn1123His)	AFF3 (N1148H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1697153	NM_001386135.1(AFF3):c.3351_3356dup (p.Pro1119_Met1120insSerPro)	AFF3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3092622	NM_001386135.1(AFF3):c.3349C>G (p.Pro1117Ala)	AFF3 (P1117A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597341	NM_001386135.1(AFF3):c.3322G>C (p.Gly1108Arg)	AFF3 (G1108R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274589	NM_001386135.1(AFF3):c.3317C>T (p.Pro1106Leu)	AFF3 (P1106L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500439	NM_001386135.1(AFF3):c.3287A>G (p.Asn1096Ser)	AFF3 (N1096S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707804	NM_001386135.1(AFF3):c.3246C>G (p.His1082Gln)	AFF3 (H1082Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369278	NM_001386135.1(AFF3):c.3244C>G (p.His1082Asp)	AFF3 (H1082D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473473	NM_001386135.1(AFF3):c.3155A>G (p.Asn1052Ser)	AFF3 (N1052S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092612	NM_001386135.1(AFF3):c.3127A>G (p.Met1043Val)	AFF3 (M1068V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651183	NM_001386135.1(AFF3):c.3067A>G (p.Met1023Val)	AFF3 (M1023V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802655	NM_001386135.1(AFF3):c.3059A>G (p.Gln1020Arg)	AFF3 (Q1020R +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3250990	NM_001386135.1(AFF3):c.3043G>T (p.Gly1015Ter)	AFF3 (G1015* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3274609	NM_001386135.1(AFF3):c.3037G>A (p.Glu1013Lys)	AFF3 (E1038K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327684	NM_001386135.1(AFF3):c.2965C>T (p.His989Tyr)	AFF3 (H1014Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341916	NM_001386135.1(AFF3):c.2914G>C (p.Asp972His)	AFF3 (D972H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3059808	NM_001386135.1(AFF3):c.2910C>T (p.Phe970=)	AFF3	Single nucleotide variant (synonymous variant)	AFF3-related disorder	GBenign
Select item 2651184	NM_001386135.1(AFF3):c.2861C>G (p.Ser954Cys)	AFF3 (S954C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2651185	NM_001386135.1(AFF3):c.2856G>A (p.Pro952=)	AFF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3274579	NM_001386135.1(AFF3):c.2849C>T (p.Thr950Met)	AFF3 (T975M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2245986	NM_001386135.1(AFF3):c.2839C>G (p.Arg947Gly)	AFF3 (R947G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631655	NM_001386135.1(AFF3):c.2805CAA[1] (p.Asn937del)	AFF3 (N937del +1 more)	Microsatellite (inframe_deletion)	AFF3-related disorder	GUncertain significance
Select item 2651186	NM_001386135.1(AFF3):c.2779G>A (p.Gly927Ser)	AFF3 (G927S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3048417	NM_001386135.1(AFF3):c.2766G>A (p.Gln922=)	AFF3	Single nucleotide variant (synonymous variant)	AFF3-related disorder	GBenign
Select item 3351829	NM_001386135.1(AFF3):c.2758G>A (p.Asp920Asn)	AFF3 (D920N +1 more)	Single nucleotide variant (missense variant)	AFF3-related disorder	GLikely benign
Select item 3352035	NM_001386135.1(AFF3):c.2714A>G (p.Asn905Ser)	AFF3 (N905S +1 more)	Single nucleotide variant (missense variant)	AFF3-related disorder	GBenign
Select item 2630555	NM_001386135.1(AFF3):c.2667C>G (p.His889Gln)	AFF3 (H889Q +1 more)	Single nucleotide variant (missense variant)	AFF3-related disorder	GUncertain significance
Select item 3092600	NM_001386135.1(AFF3):c.2629C>T (p.Arg877Trp)	AFF3 (R877W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038615	NM_001386135.1(AFF3):c.2592-5T>C	AFF3	Single nucleotide variant (intron variant)	AFF3-related disorder	GLikely benign
Select item 3035450	NM_001386135.1(AFF3):c.2591+5G>A	AFF3	Single nucleotide variant (intron variant)	AFF3-related disorder	GBenign
Select item 2254341	NM_001386135.1(AFF3):c.2549G>A (p.Ser850Asn)	AFF3 (S875N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3368321	NM_001386135.1(AFF3):c.2527T>C (p.Ser843Pro)	AFF3 (S843P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2253400	NM_001386135.1(AFF3):c.2524T>C (p.Ser842Pro)	AFF3 (S867P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271174	NM_001386135.1(AFF3):c.2509G>A (p.Gly837Arg)	AFF3 (G837R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568744	NM_001386135.1(AFF3):c.2499G>C (p.Lys833Asn)	AFF3 (K858N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092588	NM_001386135.1(AFF3):c.2497A>G (p.Lys833Glu)	AFF3 (K858E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549860	NM_001386135.1(AFF3):c.2482G>A (p.Asp828Asn)	AFF3 (D828N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057773	NM_001386135.1(AFF3):c.2475C>T (p.Asn825=)	AFF3	Single nucleotide variant (synonymous variant)	AFF3-related disorder	GLikely benign
Select item 2526405	NM_001386135.1(AFF3):c.2461C>G (p.Arg821Gly)	AFF3 (R821G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266160	NM_001386135.1(AFF3):c.2402C>T (p.Pro801Leu)	AFF3 (P826L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054555	NM_001386135.1(AFF3):c.2307A>G (p.Lys769=)	AFF3	Single nucleotide variant (synonymous variant)	AFF3-related disorder	GLikely benign
Select item 3370231	NM_001386135.1(AFF3):c.2258_2259del (p.Leu753fs)	AFF3 (L753fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3025493	NM_001386135.1(AFF3):c.2202C>T (p.Ile734=)	AFF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3274631	NM_001386135.1(AFF3):c.2180A>G (p.Asn727Ser)	AFF3 (N727S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528352	NM_001386135.1(AFF3):c.2176A>T (p.Ile726Phe)	AFF3 (I751F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1802654	NM_001386135.1(AFF3):c.2151dup (p.Gly718fs)	AFF3 (G718fs +1 more)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1802572	NM_001386135.1(AFF3):c.[2151dup;3059A>G]	AFF3 (G718fs +3 more)	Duplication (frameshift variant +1 more)	KINSSHIP syndrome	GLikely pathogenic
Select item 3024997	NM_001386135.1(AFF3):c.2134G>A (p.Ala712Thr)	AFF3 (A712T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2528351	NM_001386135.1(AFF3):c.2099C>T (p.Ala700Val)	AFF3 (A700V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068986	NM_001386135.1(AFF3):c.2066C>G (p.Pro689Arg)	AFF3 (P689R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569122	NM_001386135.1(AFF3):c.2062T>C (p.Tyr688His)	AFF3 (Y688H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280034	NM_001386135.1(AFF3):c.2062T>G (p.Tyr688Asp)	AFF3 (Y713D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041817	NM_001386135.1(AFF3):c.2061G>A (p.Glu687=)	AFF3	Single nucleotide variant (synonymous variant)	AFF3-related disorder	GLikely benign
Select item 2651187	NM_001386135.1(AFF3):c.2049C>T (p.Ser683=)	AFF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2316275	NM_001386135.1(AFF3):c.1982A>G (p.Lys661Arg)	AFF3 (K661R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059122	NM_001386135.1(AFF3):c.1921C>G (p.Leu641Val)	AFF3 (L641V +1 more)	Single nucleotide variant (missense variant)	AFF3-related disorder	GLikely benign
Select item 2558798	NM_001386135.1(AFF3):c.1844G>A (p.Gly615Glu)	AFF3 (G615E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242076	NM_001386135.1(AFF3):c.1823CCGCGG[3] (p.Ala611_Asp612insAlaAla)	AFF3	Microsatellite (inframe_insertion)	KINSSHIP syndrome	GUncertain significance
Select item 3092555	NM_001386135.1(AFF3):c.1834G>T (p.Asp612Tyr)	AFF3 (D612Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464452	NM_001386135.1(AFF3):c.1816G>A (p.Glu606Lys)	AFF3 (E631K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630383	NM_001386135.1(AFF3):c.1815del (p.Glu606fs)	AFF3 (E606fs +1 more)	Deletion (frameshift variant)	AFF3-related disorder	GUncertain significance
Select item 2372610	NM_001386135.1(AFF3):c.1811G>A (p.Arg604Gln)	AFF3 (R604Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059499	NM_001386135.1(AFF3):c.1788del (p.Asp598fs)	AFF3 (D598fs +1 more)	Deletion (frameshift variant)	KINSSHIP syndrome	GBenign
Select item 1694962	NM_001386135.1(AFF3):c.1788C>T (p.Ala596=)	AFF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3059258	NM_001386135.1(AFF3):c.1781_1785del (p.Thr594fs)	AFF3 (T594fs +1 more)	Deletion (frameshift variant)	AFF3-related disorder	GBenign
Select item 3092546	NM_001386135.1(AFF3):c.1769G>A (p.Arg590His)	AFF3 (R615H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256237	NM_001386135.1(AFF3):c.1748C>G (p.Ala583Gly)	AFF3 (A583G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651188	NM_001386135.1(AFF3):c.1722C>T (p.Asn574=)	AFF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3274652	NM_001386135.1(AFF3):c.1702C>A (p.Pro568Thr)	AFF3 (P568T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303737	NM_001386135.1(AFF3):c.1700T>C (p.Val567Ala)	AFF3 (V567A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052623	NM_001386135.1(AFF3):c.1689G>A (p.Pro563=)	AFF3	Single nucleotide variant (synonymous variant)	AFF3-related disorder	GBenign
Select item 2651189	NM_001386135.1(AFF3):c.1683C>G (p.Ala561=)	AFF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341352	NM_001386135.1(AFF3):c.1678G>T (p.Ala560Ser)	AFF3 (A560S +1 more)	Single nucleotide variant (missense variant)	KINSSHIP syndrome	GUncertain significance
Select item 3234220	NM_001386135.1(AFF3):c.1665C>T (p.Ala555=)	AFF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3274657	NM_001386135.1(AFF3):c.1660G>T (p.Val554Leu)	AFF3 (V579L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651190	NM_001386135.1(AFF3):c.1653C>T (p.Pro551=)	AFF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651191	NM_001386135.1(AFF3):c.1629A>G (p.Lys543=)	AFF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3274620	NM_001386135.1(AFF3):c.1606G>C (p.Ala536Pro)	AFF3 (A536P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092534	NM_001386135.1(AFF3):c.1568T>C (p.Ile523Thr)	AFF3 (I548T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444285	NM_001386135.1(AFF3):c.1548del (p.Ser517fs)	AFF3 (S517fs +1 more)	Deletion (frameshift variant)	KINSSHIP syndrome	GLikely pathogenic
Select item 2621644	NM_001386135.1(AFF3):c.1546C>T (p.Pro516Ser)	AFF3 (P516S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700858	NM_001386135.1(AFF3):c.1520G>A (p.Cys507Tyr)	AFF3 (C507Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438910	NM_001386135.1(AFF3):c.1518C>A (p.Asp506Glu)	AFF3 (D506E +1 more)	Single nucleotide variant (missense variant)	KINSSHIP syndrome	GUncertain significance
Select item 3045882	NM_001386135.1(AFF3):c.1498G>T (p.Val500Leu)	AFF3 (V500L +1 more)	Single nucleotide variant (missense variant)	AFF3-related disorder	GLikely benign
Select item 2285099	NM_001386135.1(AFF3):c.1474G>A (p.Glu492Lys)	AFF3 (E492K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305742	NM_001386135.1(AFF3):c.1472C>T (p.Ser491Leu)	AFF3 (S491L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2