NXF5[gene] and "single gene"[properties] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1240517	NC_000023.11:g.101832524A>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1265481	NC_000023.11:g.101832525T>C	NXF5	Single nucleotide variant	not provided	GBenign
Select item 2661071	NR_028089.1(NXF5):n.1507_1513del	NXF5	Deletion (non-coding transcript variant)	not provided	GLikely benign
Select item 2893476	NR_159736.1(NXF5):n.1257G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 711146	NR_028089.1(NXF5):n.1420C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	NXF5-related disorder +1 more	GBenign
Select item 2172739	NR_028089.1(NXF5):n.1416C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 791382	NR_028089.1(NXF5):n.1398C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2366999	NR_028089.1(NXF5):n.1382A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3203487	NR_028089.1(NXF5):n.1370C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2895076	NR_028089.1(NXF5):n.1358A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 3007156	NR_028089.1(NXF5):n.1341A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 3008847	NR_028089.1(NXF5):n.1338T>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2055722	NR_028089.1(NXF5):n.1324G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2069543	NR_028089.1(NXF5):n.1319G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 721704	NR_028089.1(NXF5):n.1318C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2152613	NR_028089.1(NXF5):n.1298T>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 3203495	NR_028089.1(NXF5):n.1264A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1293800	NC_000023.11:g.101838150dup	NXF5	Duplication	not provided	GBenign
Select item 1289138	NR_028089.1(NXF5):n.1103G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GBenign
Select item 3032811	NC_000023.11:g.101838414G>A	NXF5	Single nucleotide variant	NXF5-related disorder	GLikely benign
Select item 1271801	NC_000023.11:g.101838738G>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 2289400	NR_028089.1(NXF5):n.1082A>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1268507	NC_000023.11:g.101838982C>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 2541424	NR_028089.1(NXF5):n.1049C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 769490	NR_028089.1(NXF5):n.1047T>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign/Likely benign
Select item 3203493	NR_028089.1(NXF5):n.1013G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3203492	NR_028089.1(NXF5):n.983G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1250533	NC_000023.11:g.101840697T>A	NXF5	Single nucleotide variant	not provided	GBenign
Select item 2320176	NR_028089.1(NXF5):n.919G>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2904160	NR_028089.1(NXF5):n.887G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 3203491	NR_028089.1(NXF5):n.862A>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1243342	NC_000023.11:g.101840923G>A	NXF5	Single nucleotide variant	not provided	GBenign
Select item 2592179	NR_028089.1(NXF5):n.811C>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2405430	NR_028089.1(NXF5):n.788G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1205899	NR_028089.1(NXF5):n.775A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1238272	NC_000023.11:g.101841247G>A	NXF5	Single nucleotide variant	not provided	GBenign
Select item 3203489	NR_028089.1(NXF5):n.719C>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 88735	NR_028089.1(NXF5):n.697C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 2661072	NR_028089.1(NXF5):n.692A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2888029	NC_000023.11:g.101841477C>T	NXF5	Single nucleotide variant	not provided	GUncertain significance
Select item 2689629	NR_028089.1(NXF5):n.652T>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 736878	NR_028089.1(NXF5):n.647A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2964669	NR_028089.1(NXF5):n.629C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2133360	NR_028089.1(NXF5):n.629C>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2902052	NR_028089.1(NXF5):n.623T>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 1934752	NR_028089.1(NXF5):n.619C>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2963001	NR_028089.1(NXF5):n.617G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 1599717	NC_000023.11:g.101841576G>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1678228	NC_000023.11:g.101841669C>T	NXF5	Single nucleotide variant	not provided	GUncertain significance
Select item 2714827	NC_000023.11:g.101841670A>C	NXF5	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1993606	NR_028089.1(NXF5):n.595C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2909529	NR_028089.1(NXF5):n.573T>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1920468	NR_028089.1(NXF5):n.569G>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2797389	NR_028089.1(NXF5):n.540T>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2354309	NR_028089.1(NXF5):n.526T>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1911300	NR_028089.1(NXF5):n.515G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2713448	NR_028089.1(NXF5):n.514C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GUncertain significance
Select item 2978345	NR_028089.1(NXF5):n.508C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 2302496	NR_028089.1(NXF5):n.507C>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2069544	NR_028089.1(NXF5):n.505A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1916016	NR_028089.1(NXF5):n.489G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2357503	NR_028089.1(NXF5):n.488C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2618865	NR_028089.1(NXF5):n.466A>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 2353478	NR_028089.1(NXF5):n.462G>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1927067	NR_028089.1(NXF5):n.445C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1600767	NR_028089.1(NXF5):n.427A>G	NXF5	Single nucleotide variant (non-coding transcript variant)	NXF5-related disorder +1 more	GBenign
Select item 1924528	NC_000023.11:g.101841986A>T	NXF5	Single nucleotide variant	not provided	GUncertain significance
Select item 1289579	NC_000023.11:g.101842243TCTT[4]	NXF5	Microsatellite	not provided	GBenign
Select item 1238705	NC_000023.11:g.101842263_101842264insTTT	NXF5	Insertion	not provided	GBenign
Select item 1230966	NC_000023.11:g.101842263C>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1288379	NC_000023.11:g.101842664G>C	NXF5	Single nucleotide variant	not provided	GBenign
Select item 3020256	NC_000023.11:g.101842730C>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 2596598	NR_028089.1(NXF5):n.390G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3203494	NR_028089.1(NXF5):n.368G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 726012	NR_028089.1(NXF5):n.367C>T	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GLikely benign
Select item 1229320	NC_000023.11:g.101842918T>C	NXF5	Single nucleotide variant	not provided	GBenign
Select item 153035	GRCh38/hg38 Xq22.1(chrX:101854039-101857332)x0	NXF5	Copy number loss	See cases	GLikely benign

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Items: 77