ClinVar for Gene (Select 340533) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3387768	NM_001008537.3(NEXMIF):c.2692C>T (p.Gln898Ter)	NEXMIF (Q898*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 3382622	NM_001008537.3(NEXMIF):c.2755del (p.Ser919fs)	NEXMIF (S919fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic
Select item 3378400	NM_001008537.3(NEXMIF):c.1504del (p.Glu502fs)	NEXMIF (E502fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 3378204	NM_001008537.3(NEXMIF):c.2473T>A (p.Ser825Thr)	NEXMIF (S825T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376480	NM_001008537.3(NEXMIF):c.3443G>T (p.Ser1148Ile)	NEXMIF (S1148I)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 3376464	NM_001008537.3(NEXMIF):c.2462C>A (p.Ala821Asp)	NEXMIF (A821D)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 3376212	NM_001008537.3(NEXMIF):c.1423C>T (p.Gln475Ter)	NEXMIF (Q475*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 3375785	NM_001008537.3(NEXMIF):c.784G>T (p.Glu262Ter)	NEXMIF (E262*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3375035	NM_001008537.3(NEXMIF):c.-9G>T	NEXMIF	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3373644	NM_001008537.3(NEXMIF):c.2219G>A (p.Ser740Asn)	NEXMIF (S740N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373244	NM_001008537.3(NEXMIF):c.1486G>A (p.Val496Ile)	NEXMIF (V496I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373042	NM_001008537.3(NEXMIF):c.2572A>T (p.Thr858Ser)	NEXMIF (T858S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372551	NM_001008537.3(NEXMIF):c.4367C>A (p.Ala1456Asp)	NEXMIF (A1456D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371379	NM_001008537.3(NEXMIF):c.623C>G (p.Pro208Arg)	NEXMIF (P208R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371321	NM_001008537.3(NEXMIF):c.3869G>T (p.Ser1290Ile)	NEXMIF (S1290I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371073	NM_001008537.3(NEXMIF):c.3566_3570delinsCACTCTTCTCAGAAAAACACCAGGTGTTT (p.Gln1189_Ser1190delinsProLeuPheSerGluLysHisGlnValPhe)	NEXMIF	Indel (inframe_indel)	not provided	GUncertain significance
Select item 3370678	NM_001008537.3(NEXMIF):c.1031C>T (p.Thr344Ile)	NEXMIF (T344I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368545	NM_001008537.3(NEXMIF):c.1104T>G (p.Asp368Glu)	NEXMIF (D368E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367752	NM_001008537.3(NEXMIF):c.326T>C (p.Leu109Pro)	NEXMIF (L109P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367251	NM_001008537.3(NEXMIF):c.2344G>A (p.Ala782Thr)	NEXMIF (A782T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3364657	NM_001008537.3(NEXMIF):c.98T>C (p.Val33Ala)	NEXMIF (V33A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363713	NM_001008537.3(NEXMIF):c.3129A>G (p.Ile1043Met)	NEXMIF (I1043M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362260	NM_001008537.3(NEXMIF):c.203C>T (p.Pro68Leu)	NEXMIF (P68L)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 3360479	NM_001008537.3(NEXMIF):c.4424A>T (p.Asp1475Val)	NEXMIF (D1475V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360316	NM_001008537.3(NEXMIF):c.2623T>G (p.Ser875Ala)	NEXMIF (S875A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360153	NM_001008537.3(NEXMIF):c.1697C>A (p.Thr566Lys)	NEXMIF (T566K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358988	NM_001008537.3(NEXMIF):c.3461dup (p.Cys1155fs)	NEXMIF (C1155fs)	Duplication (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 3347439	NM_001008537.3(NEXMIF):c.4147A>C (p.Ser1383Arg)	NEXMIF (S1383R)	Single nucleotide variant (missense variant)	NEXMIF-related disorder	GUncertain significance
Select item 3343211	NM_001008537.3(NEXMIF):c.3116G>T (p.Ser1039Ile)	NEXMIF (S1039I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339834	NM_001008537.3(NEXMIF):c.2271T>C (p.Ala757=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3339401	NM_001008537.3(NEXMIF):c.1563T>A (p.Asp521Glu)	NEXMIF (D521E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299396	NM_001008537.3(NEXMIF):c.4377T>A (p.Asp1459Glu)	NEXMIF (D1459E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299395	NM_001008537.3(NEXMIF):c.3322A>G (p.Ser1108Gly)	NEXMIF (S1108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299393	NM_001008537.3(NEXMIF):c.775G>A (p.Gly259Ser)	NEXMIF (G259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299392	NM_001008537.3(NEXMIF):c.3011G>A (p.Ser1004Asn)	NEXMIF (S1004N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252397	NM_001008537.3(NEXMIF):c.3458del (p.Asn1153fs)	NEXMIF (N1153fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3252122	NM_001008537.3(NEXMIF):c.3434A>T (p.Asp1145Val)	NEXMIF (D1145V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251230	NM_001008537.3(NEXMIF):c.1433_1435delinsT (p.Tyr478fs)	NEXMIF (Y478fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 3250452	NM_001008537.3(NEXMIF):c.3987T>A (p.Asp1329Glu)	NEXMIF (D1329E)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 3246375	NC_000023.10:g.(?_73641473)_(73965485_?)dup	NEXMIF, RLIM +1 more	Duplication	not provided	GLikely pathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242208	NM_001008537.3(NEXMIF):c.475C>A (p.Pro159Thr)	NEXMIF (P159T)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 3237462	NM_001008537.3(NEXMIF):c.1130A>G (p.Asp377Gly)	NEXMIF (D377G)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 3233490	NM_001008537.3(NEXMIF):c.322G>A (p.Gly108Ser)	NEXMIF (G108S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195720	NM_001008537.3(NEXMIF):c.950T>G (p.Phe317Cys)	NEXMIF (F317C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195715	NM_001008537.3(NEXMIF):c.67G>A (p.Val23Ile)	NEXMIF (V23I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195697	NM_001008537.3(NEXMIF):c.430C>T (p.Arg144Trp)	NEXMIF (R144W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195637	NM_001008537.3(NEXMIF):c.3059A>G (p.Asp1020Gly)	NEXMIF (D1020G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195598	NM_001008537.3(NEXMIF):c.155T>C (p.Val52Ala)	NEXMIF (V52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195585	NM_001008537.3(NEXMIF):c.1280G>A (p.Gly427Asp)	NEXMIF (G427D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3075952	NM_001008537.3(NEXMIF):c.1771A>T (p.Lys591Ter)	NEXMIF (K591*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3066177	NM_001008537.3(NEXMIF):c.2506del (p.His836fs)	NEXMIF (H836fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 3062539	GRCh37/hg19 Xq13.2-13.3(chrX:73711735-74359699)	ABCB7, NEXMIF +2 more	Copy number gain	not specified	GPathogenic
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3061250	NM_001008537.3(NEXMIF):c.4478T>G (p.Leu1493Arg)	NEXMIF (L1493R)	Single nucleotide variant (missense variant)	NEXMIF-related disorder	GUncertain significance
Select item 3044724	NM_001008537.3(NEXMIF):c.266A>T (p.His89Leu)	NEXMIF (H89L)	Single nucleotide variant (missense variant)	NEXMIF-related disorder	GUncertain significance
Select item 3026204	NM_001008537.3(NEXMIF):c.3867C>T (p.Ser1289=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3024518	NM_001008537.3(NEXMIF):c.1131dup (p.Lys378Ter)	NEXMIF (K378*)	Duplication (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 3022956	NM_001008537.3(NEXMIF):c.79+14A>G	NEXMIF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019929	NM_001008537.3(NEXMIF):c.755C>T (p.Ala252Val)	NEXMIF (A252V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019399	NM_001008537.3(NEXMIF):c.644G>C (p.Gly215Ala)	NEXMIF (G215A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018670	NM_001008537.3(NEXMIF):c.3880A>C (p.Ser1294Arg)	NEXMIF (S1294R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3014499	NM_001008537.3(NEXMIF):c.3514G>C (p.Val1172Leu)	NEXMIF (V1172L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008865	NM_001008537.3(NEXMIF):c.4011C>T (p.Ser1337=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998645	NM_001008537.3(NEXMIF):c.527C>T (p.Thr176Met)	NEXMIF (T176M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989518	NM_001008537.3(NEXMIF):c.1114A>T (p.Ile372Phe)	NEXMIF (I372F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987251	NM_001008537.3(NEXMIF):c.843G>A (p.Leu281=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985137	NM_001008537.3(NEXMIF):c.3334A>G (p.Ile1112Val)	NEXMIF (I1112V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2983455	NM_001008537.3(NEXMIF):c.1207A>G (p.Asn403Asp)	NEXMIF (N403D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983446	NM_001008537.3(NEXMIF):c.1055G>A (p.Ser352Asn)	NEXMIF (S352N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956696	NM_001008537.3(NEXMIF):c.1111A>G (p.Ile371Val)	NEXMIF (I371V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916008	NM_001008537.3(NEXMIF):c.2114A>G (p.Gln705Arg)	NEXMIF (Q705R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912691	NM_001008537.3(NEXMIF):c.150A>C (p.Thr50=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911155	NM_001008537.3(NEXMIF):c.2300C>T (p.Thr767Ile)	NEXMIF (T767I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903585	NM_001008537.3(NEXMIF):c.1020C>T (p.Ser340=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903120	NM_001008537.3(NEXMIF):c.152C>T (p.Pro51Leu)	NEXMIF (P51L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2902689	NM_001008537.3(NEXMIF):c.194T>C (p.Leu65Pro)	NEXMIF (L65P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899321	NM_001008537.3(NEXMIF):c.1485T>C (p.Asp495=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898403	NM_001008537.3(NEXMIF):c.170C>A (p.Thr57Asn)	NEXMIF (T57N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897650	NM_001008537.3(NEXMIF):c.4508C>T (p.Pro1503Leu)	NEXMIF (P1503L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893631	NM_001008537.3(NEXMIF):c.327G>A (p.Leu109=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893426	NM_001008537.3(NEXMIF):c.80-21_80-20del	NEXMIF	Deletion (intron variant)	not provided	GLikely benign
Select item 2888932	NM_001008537.3(NEXMIF):c.414T>C (p.Cys138=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886551	NM_001008537.3(NEXMIF):c.4162G>A (p.Ala1388Thr)	NEXMIF (A1388T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2881170	NM_001008537.3(NEXMIF):c.4414G>A (p.Val1472Ile)	NEXMIF (V1472I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874067	NM_001008537.3(NEXMIF):c.4494C>T (p.Thr1498=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2873077	NM_001008537.3(NEXMIF):c.910G>A (p.Gly304Ser)	NEXMIF (G304S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871615	NM_001008537.3(NEXMIF):c.1801T>G (p.Ser601Ala)	NEXMIF (S601A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870479	NM_001008537.3(NEXMIF):c.2775A>C (p.Glu925Asp)	NEXMIF (E925D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865968	NM_001008537.3(NEXMIF):c.3316T>C (p.Leu1106=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861870	NM_001008537.3(NEXMIF):c.3325G>C (p.Val1109Leu)	NEXMIF (V1109L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858606	NM_001008537.3(NEXMIF):c.3364C>A (p.Gln1122Lys)	NEXMIF (Q1122K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857961	NM_001008537.3(NEXMIF):c.3460C>T (p.Pro1154Ser)	NEXMIF (P1154S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857486	NM_001008537.3(NEXMIF):c.4325C>A (p.Pro1442Gln)	NEXMIF (P1442Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856643	NM_001008537.3(NEXMIF):c.3641A>G (p.Lys1214Arg)	NEXMIF (K1214R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856407	NM_001008537.3(NEXMIF):c.1930A>G (p.Ile644Val)	NEXMIF (I644V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854074	NM_001008537.3(NEXMIF):c.2649C>A (p.Ser883Arg)	NEXMIF (S883R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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