ClinVar for Gene (Select 2334) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3598108	NM_002025.4(AFF2):c.232_233delinsG (p.Tyr78fs)	AFF2 (Y74fs +1 more)	Indel (frameshift variant)	FRAXE	GLikely pathogenic
Select item 3573463	NM_002025.4(AFF2):c.1699G>T (p.Glu567Ter)	AFF2 (E208* +5 more)	Single nucleotide variant (nonsense)	FRAXE	GLikely pathogenic
Select item 3572853	NM_002025.4(AFF2):c.901A>G (p.Ile301Val)	AFF2 (I297V +1 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 3503895	NM_002025.4(AFF2):c.1393G>T (p.Val465Leu)	AFF2 (V426L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3503885	NM_002025.4(AFF2):c.701T>C (p.Phe234Ser)	AFF2 (F234S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3503876	NM_002025.4(AFF2):c.620G>T (p.Gly207Val)	AFF2 (G207V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3503866	NM_002025.4(AFF2):c.2975C>T (p.Ala992Val)	AFF2 (A953V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3503856	NM_002025.4(AFF2):c.2687G>A (p.Arg896Lys)	AFF2 (R857K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3503845	NM_002025.4(AFF2):c.144T>A (p.Phe48Leu)	AFF2 (F48L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3503834	NM_002025.4(AFF2):c.2798A>G (p.Asn933Ser)	AFF2 (N898S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3503825	NM_002025.4(AFF2):c.2285G>A (p.Ser762Asn)	AFF2 (S723N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3503805	NM_002025.4(AFF2):c.1525T>A (p.Ser509Thr)	AFF2 (S150T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3503801	NM_002025.4(AFF2):c.2806C>T (p.Pro936Ser)	AFF2 (P901S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3503794	NM_002025.4(AFF2):c.1940A>G (p.Lys647Arg)	AFF2 (K637R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3503789	NM_002025.4(AFF2):c.2611C>G (p.Leu871Val)	AFF2 (L512V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3392246	GRCh37/hg19 Xq28(chrX:147775880-148546644)x3	AFF2	Copy number gain	not provided	GUncertain significance
Select item 3391960	GRCh37/hg19 Xq27.3-28(chrX:145075197-155233731)x1	ABCD1, AFF2 +122 more	Copy number loss	not provided	GPathogenic
Select item 3390073	NM_002025.4(AFF2):c.2091C>T (p.Tyr697=)	AFF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3377354	NM_002025.4(AFF2):c.967C>T (p.Leu323Phe)	AFF2 (L319F +1 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 3376489	NM_002025.4(AFF2):c.2185C>A (p.Gln729Lys)	AFF2 (Q370K +5 more)	Single nucleotide variant (missense variant)	FRAXE	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 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 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 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 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 3367153	NM_002025.4(AFF2):c.2824A>G (p.Asn942Asp)	AFF2 (N583D +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	IGBP1, IGSF1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
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 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 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
Select item 3359837	NM_002025.4(AFF2):c.1651A>G (p.Thr551Ala)	AFF2 (T192A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359433	NM_002025.4(AFF2):c.2533G>A (p.Glu845Lys)	AFF2 (E486K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350660	NM_002025.4(AFF2):c.3345C>T (p.Arg1115=)	AFF2	Single nucleotide variant (synonymous variant)	AFF2-related disorder	GLikely benign
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 3344748	NM_002025.4(AFF2):c.2059A>G (p.Asn687Asp)	AFF2 (N328D +5 more)	Single nucleotide variant (missense variant)	AFF2-related disorder	GUncertain significance
Select item 3341853	NM_002025.4(AFF2):c.1444G>C (p.Gly482Arg)	AFF2 (G123R +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3339374	NM_002025.4(AFF2):c.2549A>G (p.Lys850Arg)	AFF2 (K491R +5 more)	Single nucleotide variant (missense variant)	not specified	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 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 3274538	NM_002025.4(AFF2):c.3046A>T (p.Thr1016Ser)	AFF2 (T1006S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274528	NM_002025.4(AFF2):c.3618_3619insA (p.Gly1207fs)	AFF2 (G1168fs +4 more)	Insertion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3274517	NM_002025.4(AFF2):c.1558C>T (p.Pro520Ser)	AFF2 (P481S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3251610	NM_002025.4(AFF2):c.2003G>A (p.Arg668Lys)	AFF2 (R309K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251017	NM_002025.4(AFF2):c.3497T>C (p.Leu1166Pro)	AFF2 (L1127P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251007	NM_002025.4(AFF2):c.2702C>T (p.Ser901Phe)	AFF2 (S542F +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235731	NM_002025.4(AFF2):c.3305C>T (p.Ala1102Val)	AFF2 (A1063V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233744	NM_002025.4(AFF2):c.2509C>T (p.Arg837Cys)	AFF2 (R478C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220887	NM_002025.4(AFF2):c.2913+3A>C	AFF2	Single nucleotide variant (intron variant)	FRAXE	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
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 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 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 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 3092458	NM_002025.4(AFF2):c.3550T>C (p.Ser1184Pro)	AFF2 (S1145P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092444	NM_002025.4(AFF2):c.3110G>T (p.Ser1037Ile)	AFF2 (S1002I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3092436	NM_002025.4(AFF2):c.2987_2998del (p.Val996_Thr999del)	AFF2	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely benign
Select item 3092428	NM_002025.4(AFF2):c.2777G>A (p.Arg926His)	AFF2 (R891H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092408	NM_002025.4(AFF2):c.2236T>C (p.Ser746Pro)	AFF2 (S713P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3092380	NM_002025.4(AFF2):c.1564C>T (p.Pro522Ser)	AFF2 (P163S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3065926	NM_002025.4(AFF2):c.2641C>T (p.Pro881Ser)	AFF2 (P522S +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 3062552	GRCh37/hg19 Xq27.3-28(chrX:144487227-148811395)	AFF2, CXorf51A +16 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062508	GRCh37/hg19 Xq28(chrX:148080513-148084213)	AFF2	Copy number loss	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
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 3043521	NM_002025.4(AFF2):c.3543C>T (p.Tyr1181=)	AFF2	Single nucleotide variant (synonymous variant)	AFF2-related disorder	GLikely benign
Select item 3034121	NM_002025.4(AFF2):c.3033C>T (p.Thr1011=)	AFF2	Single nucleotide variant (synonymous variant)	AFF2-related disorder	GLikely benign
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 3026995	NM_002025.4(AFF2):c.3814+1G>T	AFF2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3025948	NM_002025.4(AFF2):c.3477-4A>G	AFF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3025184	NM_002025.4(AFF2):c.1803T>A (p.Thr601=)	AFF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A4, ERCC6L +488 more	Copy number gain	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2673263	NM_002025.4(AFF2):c.2719A>G (p.Arg907Gly)	AFF2 (R548G +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2665033	GRCh38/hg38 Xq27.3-28(chrX:143293592-149749234)	FMR1-AS1, FMR1NB +74 more	Copy number gain	Mucopolysaccharidosis, MPS-II	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 2664642	NM_002025.4(AFF2):c.3128C>T (p.Thr1043Met)	AFF2 (T1004M +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2661613	NM_002025.4(AFF2):c.3872C>T (p.Thr1291Ile)	AFF2 (T1252I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661612	NM_002025.4(AFF2):c.2935G>C (p.Ala979Pro)	AFF2 (A620P +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661611	NM_002025.4(AFF2):c.2906C>T (p.Ser969Leu)	AFF2 (S610L +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661610	NM_002025.4(AFF2):c.2601G>A (p.Lys867=)	AFF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661609	NM_002025.4(AFF2):c.2351T>G (p.Met784Arg)	AFF2 (M425R +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661608	NM_002025.4(AFF2):c.2171A>T (p.Gln724Leu)	AFF2 (Q365L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661607	NM_002025.4(AFF2):c.1992T>C (p.His664=)	AFF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661606	NM_002025.4(AFF2):c.1871G>A (p.Arg624Lys)	AFF2 (R265K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661605	NM_002025.4(AFF2):c.1861G>A (p.Val621Met)	AFF2 (V262M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661604	NM_002025.4(AFF2):c.1692A>G (p.Gln564=)	AFF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2661602	NM_002025.4(AFF2):c.1041+56438C>T	AFF2 (A9V)	Single nucleotide variant (missense variant +1 more)	not provided	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

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