"Ambry Genetics"[submitter] AND "NEXMIF"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1799619	NM_001008537.3(NEXMIF):c.4493C>A (p.Thr1498Asn)	NEXMIF (T1498N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 588550	NM_001008537.3(NEXMIF):c.4446T>G (p.Phe1482Leu)	NEXMIF (F1482L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 588912	NM_001008537.3(NEXMIF):c.4406G>A (p.Arg1469Gln)	NEXMIF (R1469Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 541134	NM_001008537.3(NEXMIF):c.4368C>A (p.Ala1456=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 640014	NM_001008537.3(NEXMIF):c.4346G>A (p.Arg1449His)	NEXMIF (R1449H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2231847	NM_001008537.3(NEXMIF):c.4341G>C (p.Leu1447Phe)	NEXMIF (L1447F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 588029	NM_001008537.3(NEXMIF):c.4337A>G (p.Lys1446Arg)	NEXMIF (K1446R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 753341	NM_001008537.3(NEXMIF):c.4325C>T (p.Pro1442Leu)	NEXMIF (P1442L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1157196	NM_001008537.3(NEXMIF):c.4321G>A (p.Gly1441Arg)	NEXMIF (G1441R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1471394	NM_001008537.3(NEXMIF):c.4258G>A (p.Glu1420Lys)	NEXMIF (E1420K)	Single nucleotide variant (missense variant)	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 211268	NM_001008537.3(NEXMIF):c.4243A>G (p.Met1415Val)	NEXMIF (M1415V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1466926	NM_001008537.3(NEXMIF):c.4217C>A (p.Ala1406Glu)	NEXMIF (A1406E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1799572	NM_001008537.3(NEXMIF):c.4177A>C (p.Arg1393=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 985380	NM_001008537.3(NEXMIF):c.4152dup (p.Ser1385fs)	NEXMIF (S1385fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 502305	NM_001008537.3(NEXMIF):c.4145A>G (p.Asn1382Ser)	NEXMIF (N1382S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 590012	NM_001008537.3(NEXMIF):c.4074G>T (p.Glu1358Asp)	NEXMIF (E1358D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 986269	NM_001008537.3(NEXMIF):c.4052C>A (p.Pro1351His)	NEXMIF (P1351H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1542087	NM_001008537.3(NEXMIF):c.4043A>G (p.His1348Arg)	NEXMIF (H1348R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 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 2324145	NM_001008537.3(NEXMIF):c.3776C>A (p.Ala1259Asp)	NEXMIF (A1259D)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely 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 1799622	NM_001008537.3(NEXMIF):c.3728G>C (p.Arg1243Pro)	NEXMIF (R1243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1033189	NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His)	NEXMIF (R1243H)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GConflicting classifications of pathogenicity
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 864723	NM_001008537.3(NEXMIF):c.3701G>A (p.Gly1234Glu)	NEXMIF (G1234E)	Single nucleotide variant (missense variant)	not specified +1 more	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 663226	NM_001008537.3(NEXMIF):c.3638G>A (p.Gly1213Asp)	NEXMIF (G1213D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2537314	NM_001008537.3(NEXMIF):c.3578A>T (p.Gln1193Leu)	NEXMIF (Q1193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 474069	NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 589459	NM_001008537.3(NEXMIF):c.3493C>T (p.Gln1165Ter)	NEXMIF (Q1165*)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 659556	NM_001008537.3(NEXMIF):c.3481G>T (p.Asp1161Tyr)	NEXMIF (D1161Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1167512	NM_001008537.3(NEXMIF):c.3479A>G (p.Asn1160Ser)	NEXMIF (N1160S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 845686	NM_001008537.3(NEXMIF):c.3460C>A (p.Pro1154Thr)	NEXMIF (P1154T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2544117	NM_001008537.3(NEXMIF):c.3459C>A (p.Asn1153Lys)	NEXMIF (N1153K)	Single nucleotide variant (missense variant)	not specified	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 1799646	NM_001008537.3(NEXMIF):c.3444C>T (p.Ser1148=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 589951	NM_001008537.3(NEXMIF):c.3439G>C (p.Val1147Leu)	NEXMIF (V1147L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 940248	NM_001008537.3(NEXMIF):c.3425A>G (p.Asn1142Ser)	NEXMIF (N1142S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1935841	NM_001008537.3(NEXMIF):c.3418A>T (p.Met1140Leu)	NEXMIF (M1140L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 844666	NM_001008537.3(NEXMIF):c.3325G>A (p.Val1109Met)	NEXMIF (V1109M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 661063	NM_001008537.3(NEXMIF):c.3323G>A (p.Ser1108Asn)	NEXMIF (S1108N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 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 589855	NM_001008537.3(NEXMIF):c.3294C>T (p.Phe1098=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 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 3195637	NM_001008537.3(NEXMIF):c.3059A>G (p.Asp1020Gly)	NEXMIF (D1020G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 957170	NM_001008537.3(NEXMIF):c.3022T>C (p.Ser1008Pro)	NEXMIF (S1008P)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 1164623	NM_001008537.3(NEXMIF):c.2966G>A (p.Arg989Gln)	NEXMIF (R989Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 474067	NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser)	NEXMIF (N984S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1409293	NM_001008537.3(NEXMIF):c.2920A>T (p.Ile974Phe)	NEXMIF (I974F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 587935	NM_001008537.3(NEXMIF):c.2917G>C (p.Glu973Gln)	NEXMIF (E973Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 521467	NM_001008537.3(NEXMIF):c.2909A>T (p.Asn970Ile)	NEXMIF (N970I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709643	NM_001008537.3(NEXMIF):c.2851G>A (p.Asp951Asn)	NEXMIF (D951N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1613281	NM_001008537.3(NEXMIF):c.2849A>G (p.Tyr950Cys)	NEXMIF (Y950C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1800318	NM_001008537.3(NEXMIF):c.2796A>G (p.Thr932=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1033188	NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile)	NEXMIF (T929I)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GUncertain significance
Select item 1666572	NM_001008537.3(NEXMIF):c.2784C>G (p.Leu928=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1799597	NM_001008537.3(NEXMIF):c.2737del (p.Ser913fs)	NEXMIF (S913fs)	Deletion (frameshift variant)	not specified	GPathogenic
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 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 588509	NM_001008537.3(NEXMIF):c.2544C>T (p.Thr848=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1622232	NM_001008537.3(NEXMIF):c.2521A>G (p.Asn841Asp)	NEXMIF (N841D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1998077	NM_001008537.3(NEXMIF):c.2518del (p.Gln840fs)	NEXMIF (Q840fs)	Deletion (frameshift variant)	not specified +1 more	GPathogenic
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 590146	NM_001008537.3(NEXMIF):c.2494T>C (p.Tyr832His)	NEXMIF (Y832H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2145055	NM_001008537.3(NEXMIF):c.2476A>G (p.Asn826Asp)	NEXMIF (N826D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 795818	NM_001008537.3(NEXMIF):c.2432C>T (p.Pro811Leu)	NEXMIF (P811L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 659105	NM_001008537.3(NEXMIF):c.2357C>G (p.Thr786Ser)	NEXMIF (T786S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 521125	NM_001008537.3(NEXMIF):c.2332_2333delinsTG (p.Glu778Trp)	NEXMIF (E778W)	Indel (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 759378	NM_001008537.3(NEXMIF):c.2331T>C (p.His777=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1013893	NM_001008537.3(NEXMIF):c.2320T>C (p.Ser774Pro)	NEXMIF (S774P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 474063	NM_001008537.3(NEXMIF):c.2315G>A (p.Arg772His)	NEXMIF (R772H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1310012	NM_001008537.3(NEXMIF):c.2314C>T (p.Arg772Cys)	NEXMIF (R772C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 589873	NM_001008537.3(NEXMIF):c.2311T>C (p.Ser771Pro)	NEXMIF (S771P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 474059	NM_001008537.3(NEXMIF):c.2154T>C (p.Asn718=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1800347	NM_001008537.3(NEXMIF):c.2150T>C (p.Leu717Pro)	NEXMIF (L717P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 541133	NM_001008537.3(NEXMIF):c.2139G>A (p.Glu713=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 435597	NM_001008537.3(NEXMIF):c.2130G>A (p.Lys710=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1800321	NM_001008537.3(NEXMIF):c.2099T>A (p.Val700Glu)	NEXMIF (V700E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435598	NM_001008537.3(NEXMIF):c.2098G>C (p.Val700Leu)	NEXMIF (V700L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1711714	NM_001008537.3(NEXMIF):c.2087G>T (p.Gly696Val)	NEXMIF (G696V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 474058	NM_001008537.3(NEXMIF):c.1983C>T (p.His661=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 190220	NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)	NEXMIF (R628*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic

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