"GeneDx"[submitter] AND "AFF2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 57991	GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1	AFF2, ATP11C +135 more	Copy number loss	See cases	GPathogenic
Select item 58006	GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1	AFF2, EOLA1 +74 more	Copy number loss	See cases	GPathogenic
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 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 3375798	NM_002025.4(AFF2):c.189A>C (p.Lys63Asn)	AFF2 (K59N +1 more)	Single nucleotide variant (missense 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 489209	NM_002025.4(AFF2):c.1173G>A (p.Gln391=)	AFF2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
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 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 3369367	NM_002025.4(AFF2):c.1262C>T (p.Ser421Leu)	AFF2 (S388L +2 more)	Single nucleotide variant (missense 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 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 389455	NM_002025.4(AFF2):c.1460C>T (p.Ser487Phe)	AFF2 (S487F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307965	NM_002025.4(AFF2):c.1487C>T (p.Ser496Leu)	AFF2 (S137L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 128281	NM_002025.4(AFF2):c.1488G>A (p.Ser496=)	AFF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2503229	NM_002025.4(AFF2):c.1511C>T (p.Thr504Ile)	AFF2 (T145I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451356	NM_002025.4(AFF2):c.1558C>A (p.Pro520Thr)	AFF2 (P520T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497812	NM_002025.4(AFF2):c.1675C>A (p.Pro559Thr)	AFF2 (P200T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722822	NM_002025.4(AFF2):c.1708A>G (p.Met570Val)	AFF2 (M211V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372540	NM_002025.4(AFF2):c.1942C>T (p.Pro648Ser)	AFF2 (P289S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304877	NM_002025.4(AFF2):c.2056C>T (p.Pro686Ser)	AFF2 (P327S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304104	NM_002025.4(AFF2):c.2086A>G (p.Lys696Glu)	AFF2 (K337E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443535	NM_002025.4(AFF2):c.2113C>T (p.Pro705Ser)	AFF2 (P346S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311667	NM_002025.4(AFF2):c.2219G>T (p.Gly740Val)	AFF2 (G381V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723084	NM_002025.4(AFF2):c.2278A>T (p.Met760Leu)	AFF2 (M401L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577581	NM_002025.4(AFF2):c.2473A>G (p.Lys825Glu)	AFF2 (K466E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308931	NM_002025.4(AFF2):c.2568+5_2568+13del	AFF2	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1305777	NM_002025.4(AFF2):c.2614G>C (p.Glu872Gln)	AFF2 (E513Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 166659	NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala)	AFF2 (P886A +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 3373569	NM_002025.4(AFF2):c.2693A>G (p.Asn898Ser)	AFF2 (N539S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451523	NM_002025.4(AFF2):c.3038C>T (p.Thr1013Met)	AFF2 (T1013M +4 more)	Single nucleotide variant (missense variant)	FRAXE +1 more	GUncertain significance
Select item 1311780	NM_002025.4(AFF2):c.3046A>C (p.Thr1016Pro)	AFF2 (T1006P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365062	NM_002025.4(AFF2):c.3085A>G (p.Thr1029Ala)	AFF2 (T1019A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504874	NM_002025.4(AFF2):c.3167C>T (p.Thr1056Ile)	AFF2 (T1017I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501306	NM_002025.4(AFF2):c.3220T>C (p.Tyr1074His)	AFF2 (Y1035H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431909	NM_002025.4(AFF2):c.3267+5G>A	AFF2	Single nucleotide variant (intron variant)	FRAXE +1 more	GConflicting classifications of pathogenicity
Select item 3365767	NM_002025.4(AFF2):c.3298G>A (p.Ala1100Thr)	AFF2 (A1061T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800566	NM_002025.4(AFF2):c.3313T>C (p.Ser1105Pro)	AFF2 (S1066P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702599	NM_002025.4(AFF2):c.3395A>G (p.Glu1132Gly)	AFF2 (E1093G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450927	NM_002025.4(AFF2):c.3405-1G>T	AFF2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1809889	NM_002025.4(AFF2):c.3431C>A (p.Ala1144Glu)	AFF2 (A1105E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383413	NM_002025.4(AFF2):c.3447G>A (p.Ser1149=)	AFF2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1310386	NM_002025.4(AFF2):c.3482G>A (p.Arg1161Gln)	AFF2 (R1122Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424137	NM_002025.4(AFF2):c.3575del (p.Asn1192fs)	AFF2 (N1182fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1202065	NM_002025.4(AFF2):c.3679A>C (p.Asn1227His)	AFF2 (N1188H +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 434100	NM_002025.4(AFF2):c.3697G>A (p.Val1233Ile)	AFF2 (V1233I +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1704985	NM_002025.4(AFF2):c.3739G>A (p.Val1247Ile)	AFF2 (V1208I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372899	NM_002025.4(AFF2):c.3776A>T (p.His1259Leu)	AFF2 (H1220L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449700	NM_002025.4(AFF2):c.3847C>T (p.Pro1283Ser)	AFF2 (P1283S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3362126	NM_002025.4(AFF2):c.1123A>G (p.Met375Val)	AFF2 (M371V +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3361801	NM_002025.4(AFF2):c.297G>C (p.Lys99Asn)	AFF2 (K95N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361308	NM_002025.4(AFF2):c.1181A>G (p.Gln394Arg)	AFF2 (Q35R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360744	NM_002025.4(AFF2):c.2921A>T (p.Asp974Val)	AFF2 (D615V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360601	NM_002025.4(AFF2):c.142T>C (p.Phe48Leu)	AFF2 (F48L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360393	NM_002025.4(AFF2):c.2504C>G (p.Pro835Arg)	AFF2 (P476R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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