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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 211270	NM_001008537.3(NEXMIF):c.4509T>C (p.Pro1503=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1313198	NM_001008537.3(NEXMIF):c.4465G>A (p.Asp1489Asn)	NEXMIF (D1489N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304356	NM_001008537.3(NEXMIF):c.4458G>A (p.Arg1486=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1302372	NM_001008537.3(NEXMIF):c.4458-2A>G	NEXMIF	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1196979	NM_001008537.3(NEXMIF):c.4458-13G>T	NEXMIF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215717	NM_001008537.3(NEXMIF):c.4458-194A>G	NEXMIF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1468130	NM_001008537.3(NEXMIF):c.4439del (p.Ala1480fs)	NEXMIF (A1480fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 716580	NM_001008537.3(NEXMIF):c.4422G>A (p.Lys1474=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 587915	NM_001008537.3(NEXMIF):c.4320C>T (p.Asn1440=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1303626	NM_001008537.3(NEXMIF):c.4304G>A (p.Ser1435Asn)	NEXMIF (S1435N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966881	NM_001008537.3(NEXMIF):c.4294A>G (p.Ser1432Gly)	NEXMIF (S1432G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334328	NM_001008537.3(NEXMIF):c.4275CTT[1] (p.Phe1427del)	NEXMIF (F1427del)	Microsatellite (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 211269	NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser)	NEXMIF (P1416S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 393238	NM_001008537.3(NEXMIF):c.4228C>T (p.Pro1410Ser)	NEXMIF (P1410S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 474074	NM_001008537.3(NEXMIF):c.4205A>G (p.Asn1402Ser)	NEXMIF (N1402S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1802006	NM_001008537.3(NEXMIF):c.4202G>A (p.Ser1401Asn)	NEXMIF (S1401N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037629	NM_001008537.3(NEXMIF):c.4189G>T (p.Gly1397Cys)	NEXMIF (G1397C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485289	NM_001008537.3(NEXMIF):c.4159G>A (p.Gly1387Arg)	NEXMIF (G1387R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311728	NM_001008537.3(NEXMIF):c.4150G>A (p.Gly1384Arg)	NEXMIF (G1384R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1123991	NM_001008537.3(NEXMIF):c.4089A>G (p.Lys1363=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1700315	NM_001008537.3(NEXMIF):c.4054A>C (p.Asn1352His)	NEXMIF (N1352H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625966	NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn)	NEXMIF (D1350N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426513	NM_001008537.3(NEXMIF):c.4021C>G (p.Leu1341Val)	NEXMIF (L1341V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434335	NM_001008537.3(NEXMIF):c.4004T>C (p.Met1335Thr)	NEXMIF (M1335T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1306571	NM_001008537.3(NEXMIF):c.3932G>A (p.Arg1311Gln)	NEXMIF (R1311Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1306093	NM_001008537.3(NEXMIF):c.3874G>T (p.Gly1292Cys)	NEXMIF (G1292C)	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 1708921	NM_001008537.3(NEXMIF):c.3867C>A (p.Ser1289Arg)	NEXMIF (S1289R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390337	NM_001008537.3(NEXMIF):c.3855G>A (p.Leu1285=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1164222	NM_001008537.3(NEXMIF):c.3826C>G (p.Gln1276Glu)	NEXMIF (Q1276E)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 474073	NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly)	NEXMIF (S1275G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 474072	NM_001008537.3(NEXMIF):c.3812T>C (p.Met1271Thr)	NEXMIF (M1271T)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 211266	NM_001008537.3(NEXMIF):c.3798C>T (p.Gly1266=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 566213	NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr)	NEXMIF (A1259T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 541130	NM_001008537.3(NEXMIF):c.3753A>G (p.Ile1251Met)	NEXMIF (I1251M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2501633	NM_001008537.3(NEXMIF):c.3737G>A (p.Ser1246Asn)	NEXMIF (S1246N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 474071	NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu)	NEXMIF (M1237L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 424180	NM_001008537.3(NEXMIF):c.3703G>A (p.Glu1235Lys)	NEXMIF (E1235K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1311503	NM_001008537.3(NEXMIF):c.3691G>T (p.Ala1231Ser)	NEXMIF (A1231S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497885	NM_001008537.3(NEXMIF):c.3655G>A (p.Val1219Ile)	NEXMIF (V1219I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215947	NM_001008537.3(NEXMIF):c.3650G>A (p.Arg1217His)	NEXMIF (R1217H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 88753	NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs)	NEXMIF (S1200fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 817190	NM_001008537.3(NEXMIF):c.3584dup (p.Asn1195fs)	NEXMIF (N1195fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3371073	NM_001008537.3(NEXMIF):c.3566_3570delinsCACTCTTCTCAGAAAAACACCAGGTGTTT (p.Gln1189_Ser1190delinsProLeuPheSerGluLysHisGlnValPhe)	NEXMIF	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1305753	NM_001008537.3(NEXMIF):c.3485C>T (p.Pro1162Leu)	NEXMIF (P1162L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695599	NM_001008537.3(NEXMIF):c.3482A>G (p.Asp1161Gly)	NEXMIF (D1161G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 653605	NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs)	NEXMIF (N1153fs)	Duplication (frameshift variant)	not specified +2 more	GPathogenic
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 435600	NM_001008537.3(NEXMIF):c.3402C>A (p.His1134Gln)	NEXMIF (H1134Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 435595	NM_001008537.3(NEXMIF):c.3386T>G (p.Phe1129Cys)	NEXMIF (F1129C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1311326	NM_001008537.3(NEXMIF):c.3371A>T (p.Gln1124Leu)	NEXMIF (Q1124L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1712121	NM_001008537.3(NEXMIF):c.3367G>T (p.Val1123Phe)	NEXMIF (V1123F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 541135	NM_001008537.3(NEXMIF):c.3361C>T (p.Arg1121Trp)	NEXMIF (R1121W)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 958507	NM_001008537.3(NEXMIF):c.3350G>A (p.Ser1117Asn)	NEXMIF (S1117N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008249	NM_001008537.3(NEXMIF):c.3347G>C (p.Cys1116Ser)	NEXMIF (C1116S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 211264	NM_001008537.3(NEXMIF):c.3319G>A (p.Asp1107Asn)	NEXMIF (D1107N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1207711	NM_001008537.3(NEXMIF):c.3302G>C (p.Gly1101Ala)	NEXMIF (G1101A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 520765	NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe)	NEXMIF (L1068F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1801201	NM_001008537.3(NEXMIF):c.3149C>T (p.Thr1050Ile)	NEXMIF (T1050I)	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 590102	NM_001008537.3(NEXMIF):c.3126G>C (p.Glu1042Asp)	NEXMIF (E1042D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1708716	NM_001008537.3(NEXMIF):c.3119T>C (p.Ile1040Thr)	NEXMIF (I1040T)	Single nucleotide variant (missense variant)	not provided +1 more	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 1207154	NM_001008537.3(NEXMIF):c.3086A>C (p.His1029Pro)	NEXMIF (H1029P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242320	NM_001008537.3(NEXMIF):c.3053_3066del (p.Gly1018fs)	NEXMIF (G1018fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 709642	NM_001008537.3(NEXMIF):c.3001G>C (p.Val1001Leu)	NEXMIF (V1001L)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1308743	NM_001008537.3(NEXMIF):c.2899T>A (p.Cys967Ser)	NEXMIF (C967S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508324	NM_001008537.3(NEXMIF):c.2895A>G (p.Gln965=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1138434	NM_001008537.3(NEXMIF):c.2841G>A (p.Lys947=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 474066	NM_001008537.3(NEXMIF):c.2801A>G (p.Asn934Ser)	NEXMIF (N934S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2430768	NM_001008537.3(NEXMIF):c.2795C>A (p.Thr932Lys)	NEXMIF (T932K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574773	NM_001008537.3(NEXMIF):c.2781C>A (p.Asn927Lys)	NEXMIF (N927K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306178	NM_001008537.3(NEXMIF):c.2723T>A (p.Ile908Lys)	NEXMIF (I908K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693314	NM_001008537.3(NEXMIF):c.2720A>C (p.Glu907Ala)	NEXMIF (E907A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372164	NM_001008537.3(NEXMIF):c.2680A>G (p.Thr894Ala)	NEXMIF (T894A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93464	NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser)	NEXMIF (N891S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2571740	NM_001008537.3(NEXMIF):c.2662G>A (p.Val888Met)	NEXMIF (V888M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306732	NM_001008537.3(NEXMIF):c.2654A>C (p.Tyr885Ser)	NEXMIF (Y885S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315427	NM_001008537.3(NEXMIF):c.2626C>T (p.His876Tyr)	NEXMIF (H876Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560258	NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro)	NEXMIF (S869P)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GUncertain significance
Select item 129383	NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1210736	NM_001008537.3(NEXMIF):c.2587C>T (p.Leu863Phe)	NEXMIF (L863F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320608	NM_001008537.3(NEXMIF):c.2582G>A (p.Cys861Tyr)	NEXMIF (C861Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698127	NM_001008537.3(NEXMIF):c.2578G>T (p.Asp860Tyr)	NEXMIF (D860Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 968141	NM_001008537.3(NEXMIF):c.2576A>G (p.Gln859Arg)	NEXMIF (Q859R)	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 2412990	NM_001008537.3(NEXMIF):c.2513C>T (p.Pro838Leu)	NEXMIF (P838L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313384	NM_001008537.3(NEXMIF):c.2509T>G (p.Ser837Ala)	NEXMIF (S837A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734790	NM_001008537.3(NEXMIF):c.2505C>T (p.His835=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 541120	NM_001008537.3(NEXMIF):c.2504A>C (p.His835Pro)	NEXMIF (H835P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 818040	NM_001008537.3(NEXMIF):c.2458del (p.Asp820fs)	NEXMIF (D820fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2663034	NM_001008537.3(NEXMIF):c.2450C>T (p.Thr817Ile)	NEXMIF (T817I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 474061	NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 955393	NM_001008537.3(NEXMIF):c.2369C>T (p.Thr790Met)	NEXMIF (T790M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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