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EmVClass

NTD Genetics' Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by NTD Genetics for that gene.
NTD Genetics classification definitions may be reviewed here.
You may submit a question regarding a variant by clicking the appropriate button on the returned data table.
You may prompt a review of a variant of unknown signifigance (VOUS) reviewed greater than six months ago by clicking the appropriate button on the returned data table.
If a reported variant has changed classification, you may request an amended report by clicking here.
OrderGeneExonNucleotide ChangeProtein ChangeAlias ListingClassificationLast Reviewed  
1FHL1Ex3NM_001159702.2:c.66G>Ap.Lys22= | p.K22=LRG_739t1:c.66G>A, LRG_739t2:c.66G>A, NM_001159699.1:c.114G>A, NM_001159700.1:c.66G>A, NM_001159701.1:c.153G>A, NM_001159702.2:c.66G>A, NM_001159703.1:c.66G>A, NM_001159704.1:c.66G>A, NM_001167819.1:c.66G>A, NM_001449.3:c.66G>A, NM_001449.4:c.66G>A, NR_027621.1:n.477G>ALikely benign06/22/2017 
2FHL1Ex5NM_001159702.2:c.441C>Tp.Asp147= | p.D147=NM_001159699.1:c.489C>T, NM_001159700.1:c.441C>T, NM_001159701.1:c.528C>T, NM_001159702.2:c.441C>T, NM_001159703.1:c.441C>T, NM_001159704.1:c.441C>T, NM_001167819.1:c.441C>T, NM_001449.3:c.441C>T, NM_001449.4:c.441C>T, NR_027621.1:n.852C>TBenign11/06/2015 
3FHL1Ex5NM_001159702.2:c.450C>Tp.Cys150= | p.C150=NM_001159699.1:c.498C>T, NM_001159700.1:c.450C>T, NM_001159701.1:c.537C>T, NM_001159702.2:c.450C>T, NM_001159703.1:c.450C>T, NM_001159704.1:c.450C>T, NM_001167819.1:c.450C>T, NM_001449.3:c.450C>T, NM_001449.4:c.450C>T, NR_027621.1:n.861C>TBenign02/02/2016 
4FHL1Ex6NM_001159702.2:c.596G>Ap.Arg199His | p.R199HNM_001159699.1:c.644G>A, NM_001159700.1:c.596G>A, NM_001159701.1:c.683G>A, NM_001159702.2:c.596G>A, NM_001159703.1:c.501+588G>A, NM_001159704.1:c.596G>A, NM_001167819.1:c.596G>A, NM_001173517.1:c.*6497C>T, NM_001449.3:c.596G>A, NM_001449.4:c.596G>A, NR_027621.1:n.1007G>AVOUS12/18/2015
5FHL1Ex7NM_001159702.2:c.689-6C>TLRG_739t1:c.689-6C>T, LRG_739t2:c.688+596C>T, NM_001159699.1:c.736+596C>T, NM_001159700.1:c.688+596C>T, NM_001159701.1:c.775+596C>T, NM_001159702.2:c.689-6C>T, NM_001159703.1:c.502-634C>T, NM_001159704.1:c.688+596C>T, NM_001167819.1:c.688+596C>T, NM_001173517.1:c.*5809G>A, NM_001449.3:c.688+596C>T, NM_001449.4:c.688+596C>T, NR_027621.1:n.1099+596C>TVOUS10/27/2017
6FHL1Ex7NM_001159702.2:c.697A>Gp.Thr233Ala | p.T233ALRG_739t1:c.697A>G, LRG_739t2:c.688+610A>G, NM_001159699.1:c.736+610A>G, NM_001159700.1:c.688+610A>G, NM_001159701.1:c.775+610A>G, NM_001159702.2:c.697A>G, NM_001159703.1:c.502-620A>G, NM_001159704.1:c.688+610A>G, NM_001167819.1:c.688+610A>G, NM_001173517.1:c.*5795T>C, NM_001449.3:c.688+610A>G, NM_001449.4:c.688+610A>G, NR_027621.1:n.1099+610A>GVOUS08/10/2016
7FHL1Ex7NM_001159702.2:c.745G>Ap.Val249Met | p.V249MLRG_739t1:c.745G>A, LRG_739t2:c.689-572G>A, NM_001159699.1:c.737-572G>A, NM_001159700.1:c.689-572G>A, NM_001159701.1:c.776-572G>A, NM_001159702.2:c.745G>A, NM_001159703.1:c.502-572G>A, NM_001159704.1:c.689-572G>A, NM_001167819.1:c.689-572G>A, NM_001173517.1:c.*5747C>T, NM_001449.3:c.689-572G>A, NM_001449.4:c.689-572G>A, NR_027621.1:n.1100-572G>AVOUS12/21/2017
8FHL1Ex7NM_001159702.2:c.760C>Tp.Arg254Cys | p.R254CLRG_739t1:c.760C>T, LRG_739t2:c.689-557C>T, NM_001159699.1:c.737-557C>T, NM_001159700.1:c.689-557C>T, NM_001159701.1:c.776-557C>T, NM_001159702.2:c.760C>T, NM_001159703.1:c.502-557C>T, NM_001159704.1:c.689-557C>T, NM_001167819.1:c.689-557C>T, NM_001173517.1:c.*5732G>A, NM_001449.3:c.689-557C>T, NM_001449.4:c.689-557C>T, NR_027621.1:n.1100-557C>TVOUS06/01/2018
9FHL1Ex7NM_001159702.2:c.767_768delCTinsTCNM_001159699.1:c.737-550_737-549delinsTC, NM_001159700.1:c.689-550_689-549delinsTC, NM_001159701.1:c.776-550_776-549delinsTC, NM_001159702.2:c.767_768delinsTC, NM_001159703.1:c.502-550_502-549delinsTC, NM_001159704.1:c.689-550_689-549delinsTC, NM_001167819.1:c.689-550_689-549delinsTC, NM_001173517.1:c.*5724_*5725delinsGA, NM_001449.3:c.689-550_689-549delinsTC, NM_001449.4:c.689-550_689-549delinsTC, NR_027621.1:n.1100-550_1100-549delinsTCVOUS12/31/2015
10FHL1Ex7NM_001159702.2:c.767C>Tp.Pro256Leu | p.P256LNM_001159699.1:c.737-550C>T, NM_001159700.1:c.689-550C>T, NM_001159701.1:c.776-550C>T, NM_001159702.2:c.767C>T, NM_001159703.1:c.502-550C>T, NM_001159704.1:c.689-550C>T, NM_001167819.1:c.689-550C>T, NM_001173517.1:c.*5725G>A, NM_001449.3:c.689-550C>T, NM_001449.4:c.689-550C>T, NR_027621.1:n.1100-550C>TVOUS12/04/2015
11FHL1Ex7NM_001159702.2:c.796C>Tp.Arg266Trp | p.R266WLRG_739t1:c.796C>T, LRG_739t2:c.689-521C>T, NM_001159699.1:c.737-521C>T, NM_001159700.1:c.689-521C>T, NM_001159701.1:c.776-521C>T, NM_001159702.2:c.796C>T, NM_001159703.1:c.502-521C>T, NM_001159704.1:c.689-521C>T, NM_001167819.1:c.689-521C>T, NM_001173517.1:c.*5696G>A, NM_001449.3:c.689-521C>T, NM_001449.4:c.689-521C>T, NR_027621.1:n.1100-521C>TVOUS06/21/2017
12FHL1Ex8NM_001159702.2:c.*51G>ALRG_739t1:c.*51G>A, LRG_739t2:c.823G>A, NM_001159699.1:c.871G>A, NM_001159700.1:c.823G>A, NM_001159701.1:c.910G>A, NM_001159702.2:c.*51G>A, NM_001159703.1:c.*51G>A, NM_001159704.1:c.823G>A, NM_001167819.1:c.823G>A, NM_001173517.1:c.*5041C>T, NM_001449.3:c.823G>A, NM_001449.4:c.823G>A, NR_027621.1:n.1234G>ABenign01/16/2019 
13FHL1Ex8NM_001159702.2:c.889-9dupTNM_001159699.1:c.737-9_737-8insT, NM_001159700.1:c.689-9_689-8insT, NM_001159701.1:c.776-9_776-8insT, NM_001159702.2:c.889-9_889-8insT, NM_001159703.1:c.502-9_502-8insT, NM_001159704.1:c.689-9_689-8insT, NM_001167819.1:c.689-9_689-8insT, NM_001173517.1:c.*5183_*5184insA, NM_001449.3:c.689-9_689-8insT, NM_001449.4:c.689-9_689-8insT, NR_027621.1:n.1100-9_1100-8insTBenign12/05/2015 
14FHL1Ex8NM_001159702.2:c.889-9T>CLRG_739t1:c.889-9T>C, LRG_739t2:c.689-9T>C, NM_001159699.1:c.737-9T>C, NM_001159700.1:c.689-9T>C, NM_001159701.1:c.776-9T>C, NM_001159702.2:c.889-9T>C, NM_001159703.1:c.502-9T>C, NM_001159704.1:c.689-9T>C, NM_001167819.1:c.689-9T>C, NM_001173517.1:c.*5184A>G, NM_001449.3:c.689-9T>C, NM_001449.4:c.689-9T>C, NR_027621.1:n.1100-9T>CVOUS04/05/2018
15FHL1Ex8NM_001159702.2:c.889-8C>TNM_001159699.1:c.737-8C>T, NM_001159700.1:c.689-8C>T, NM_001159701.1:c.776-8C>T, NM_001159702.2:c.889-8C>T, NM_001159703.1:c.502-8C>T, NM_001159704.1:c.689-8C>T, NM_001167819.1:c.689-8C>T, NM_001173517.1:c.*5183G>A, NM_001449.3:c.689-8C>T, NM_001449.4:c.689-8C>T, NR_027621.1:n.1100-8C>TBenign06/23/2015 
16FHL1Ex8NM_001159702.2:c.938C>Tp.Thr313Met | p.T313MNM_001159699.1:c.786C>T, NM_001159700.1:c.738C>T, NM_001159701.1:c.825C>T, NM_001159702.2:c.938C>T, NM_001159703.1:c.551C>T, NM_001159704.1:c.738C>T, NM_001167819.1:c.738C>T, NM_001173517.1:c.*5126G>A, NM_001449.3:c.738C>T, NM_001449.4:c.738C>T, NR_027621.1:n.1149C>TLikely benign11/09/2015 
17FHL1Ex8NM_001159702.2:c.964G>Cp.Ala322Pro | p.A322PNM_001159699.1:c.812G>C, NM_001159700.1:c.764G>C, NM_001159701.1:c.851G>C, NM_001159702.2:c.964G>C, NM_001159703.1:c.577G>C, NM_001159704.1:c.764G>C, NM_001167819.1:c.764G>C, NM_001173517.1:c.*5100C>G, NM_001449.3:c.764G>C, NM_001449.4:c.764G>C, NR_027621.1:n.1175G>CVOUS01/22/2016
18FHL1Ex3NM_001449.4:c.5C>Tp.Ala2Val | p.A2VLRG_739t1:c.5C>T, LRG_739t2:c.5C>T, NM_001159699.1:c.53C>T, NM_001159700.1:c.5C>T, NM_001159701.1:c.92C>T, NM_001159702.2:c.5C>T, NM_001159703.1:c.5C>T, NM_001159704.1:c.5C>T, NM_001167819.1:c.5C>T, NM_001449.3:c.5C>T, NM_001449.4:c.5C>T, NR_027621.1:n.416C>TVOUS01/02/2018
19FHL1Ex3NM_001449.4:c.40T>Cp.Leu14= | p.L14=LRG_739t1:c.40T>C, LRG_739t2:c.40T>C, NM_001159699.1:c.88T>C, NM_001159700.1:c.40T>C, NM_001159701.1:c.127T>C, NM_001159702.2:c.40T>C, NM_001159703.1:c.40T>C, NM_001159704.1:c.40T>C, NM_001167819.1:c.40T>C, NM_001449.3:c.40T>C, NM_001449.4:c.40T>C, NR_027621.1:n.451T>CVOUS10/07/2016
20FHL1Ex3NM_001449.4:c.66G>Ap.Lys22= | p.K22=LRG_739t1:c.66G>A, LRG_739t2:c.66G>A, NM_001159699.1:c.114G>A, NM_001159700.1:c.66G>A, NM_001159701.1:c.153G>A, NM_001159702.2:c.66G>A, NM_001159703.1:c.66G>A, NM_001159704.1:c.66G>A, NM_001167819.1:c.66G>A, NM_001449.3:c.66G>A, NM_001449.4:c.66G>A, NR_027621.1:n.477G>ALikely benign02/08/2017 
21FHL1Ex3NM_001449.4:c.113A>Gp.Asn38Ser | p.N38SLRG_739t1:c.113A>G, LRG_739t2:c.113A>G, NM_001159699.1:c.161A>G, NM_001159700.1:c.113A>G, NM_001159701.1:c.200A>G, NM_001159702.2:c.113A>G, NM_001159703.1:c.113A>G, NM_001159704.1:c.113A>G, NM_001167819.1:c.113A>G, NM_001449.3:c.113A>G, NM_001449.4:c.113A>G, NR_027621.1:n.524A>GVOUS06/06/2016
22FHL1Ex4NM_001449.4:c.177C>Ap.Arg59= | p.R59=LRG_739t1:c.177C>A, LRG_739t2:c.177C>A, NM_001159699.1:c.225C>A, NM_001159700.1:c.177C>A, NM_001159701.1:c.264C>A, NM_001159702.2:c.177C>A, NM_001159703.1:c.177C>A, NM_001159704.1:c.177C>A, NM_001167819.1:c.177C>A, NM_001449.3:c.177C>A, NM_001449.4:c.177C>A, NR_027621.1:n.588C>ALikely benign01/26/2017 
23FHL1Ex4NM_001449.4:c.213C>Ap.Cys71* | p.C71XLRG_739t1:c.213C>A, LRG_739t2:c.213C>A, NM_001159699.1:c.261C>A, NM_001159700.1:c.213C>A, NM_001159701.1:c.300C>A, NM_001159702.2:c.213C>A, NM_001159703.1:c.213C>A, NM_001159704.1:c.213C>A, NM_001167819.1:c.213C>A, NM_001449.3:c.213C>A, NM_001449.4:c.213C>A, NR_027621.1:n.624C>APathogenic07/27/2016 
24FHL1Ex4NM_001449.4:c.254A>Gp.Asn85Ser | p.N85SNM_001159699.1:c.302A>G, NM_001159700.1:c.254A>G, NM_001159701.1:c.341A>G, NM_001159702.2:c.254A>G, NM_001159703.1:c.254A>G, NM_001159704.1:c.254A>G, NM_001167819.1:c.254A>G, NM_001449.3:c.254A>G, NM_001449.4:c.254A>G, NR_027621.1:n.665A>GVOUS02/19/2016
25FHL1Ex4NM_001449.4:c.283C>Tp.Arg95Trp | p.R95WLRG_739t1:c.283C>T, LRG_739t2:c.283C>T, NM_001159699.1:c.331C>T, NM_001159700.1:c.283C>T, NM_001159701.1:c.370C>T, NM_001159702.2:c.283C>T, NM_001159703.1:c.283C>T, NM_001159704.1:c.283C>T, NM_001167819.1:c.283C>T, NM_001449.3:c.283C>T, NM_001449.4:c.283C>T, NR_027621.1:n.694C>TLikely benign05/02/2018 
26FHL1Ex4NM_001449.4:c.308G>Tp.Gly103Val | p.G103VLRG_739t1:c.308G>T, LRG_739t2:c.308G>T, NM_001159699.1:c.356G>T, NM_001159700.1:c.308G>T, NM_001159701.1:c.395G>T, NM_001159702.2:c.308G>T, NM_001159703.1:c.308G>T, NM_001159704.1:c.308G>T, NM_001167819.1:c.308G>T, NM_001449.3:c.308G>T, NM_001449.4:c.308G>T, NR_027621.1:n.719G>TVOUS10/12/2016
27FHL1Ex5NM_001449.4:c.356G>Tp.Gly119Val | p.G119VNM_001159699.1:c.404G>T, NM_001159700.1:c.356G>T, NM_001159701.1:c.443G>T, NM_001159702.2:c.356G>T, NM_001159703.1:c.356G>T, NM_001159704.1:c.356G>T, NM_001167819.1:c.356G>T, NM_001449.3:c.356G>T, NM_001449.4:c.356G>T, NR_027621.1:n.767G>TVOUS08/14/2015
28FHL1Ex5NM_001449.4:c.360C>Tp.Thr120= | p.T120=NM_001159699.1:c.408C>T, NM_001159700.1:c.360C>T, NM_001159701.1:c.447C>T, NM_001159702.2:c.360C>T, NM_001159703.1:c.360C>T, NM_001159704.1:c.360C>T, NM_001167819.1:c.360C>T, NM_001449.3:c.360C>T, NM_001449.4:c.360C>T, NR_027621.1:n.771C>TVOUS06/11/2015
29FHL1Ex5NM_001449.4:c.361G>Ap.Val121Ile | p.V121INM_001159699.1:c.409G>A, NM_001159700.1:c.361G>A, NM_001159701.1:c.448G>A, NM_001159702.2:c.361G>A, NM_001159703.1:c.361G>A, NM_001159704.1:c.361G>A, NM_001167819.1:c.361G>A, NM_001449.3:c.361G>A, NM_001449.4:c.361G>A, NR_027621.1:n.772G>AVOUS12/04/2015
30FHL1Ex5NM_001449.4:c.366G>Cp.Trp122Cys | p.W122CLRG_739t1:c.366G>C, LRG_739t2:c.366G>C, NM_001159699.1:c.414G>C, NM_001159700.1:c.366G>C, NM_001159701.1:c.453G>C, NM_001159702.2:c.366G>C, NM_001159703.1:c.366G>C, NM_001159704.1:c.366G>C, NM_001167819.1:c.366G>C, NM_001449.3:c.366G>C, NM_001449.4:c.366G>C, NR_027621.1:n.777G>CVOUS01/12/2017
31FHL1Ex5NM_001449.4:c.374A>Gp.Asp125Gly | p.D125GLRG_739t1:c.374A>G, LRG_739t2:c.374A>G, NM_001159699.1:c.422A>G, NM_001159700.1:c.374A>G, NM_001159701.1:c.461A>G, NM_001159702.2:c.374A>G, NM_001159703.1:c.374A>G, NM_001159704.1:c.374A>G, NM_001167819.1:c.374A>G, NM_001449.3:c.374A>G, NM_001449.4:c.374A>G, NR_027621.1:n.785A>GVOUS01/26/2017
32FHL1Ex5NM_001449.4:c.399G>Ap.Lys133= | p.K133=LRG_739t1:c.399G>A, LRG_739t2:c.399G>A, NM_001159699.1:c.447G>A, NM_001159700.1:c.399G>A, NM_001159701.1:c.486G>A, NM_001159702.2:c.399G>A, NM_001159703.1:c.399G>A, NM_001159704.1:c.399G>A, NM_001167819.1:c.399G>A, NM_001449.3:c.399G>A, NM_001449.4:c.399G>A, NR_027621.1:n.810G>AVOUS08/29/2018
33FHL1Ex5NM_001449.4:c.408C>Tp.Ile136= | p.I136=LRG_739t1:c.408C>T, LRG_739t2:c.408C>T, NM_001159699.1:c.456C>T, NM_001159700.1:c.408C>T, NM_001159701.1:c.495C>T, NM_001159702.2:c.408C>T, NM_001159703.1:c.408C>T, NM_001159704.1:c.408C>T, NM_001167819.1:c.408C>T, NM_001449.3:c.408C>T, NM_001449.4:c.408C>T, NR_027621.1:n.819C>TVOUS03/01/2016
34FHL1Ex5NM_001449.4:c.441C>Tp.Asp147= | p.D147=NM_001159699.1:c.489C>T, NM_001159700.1:c.441C>T, NM_001159701.1:c.528C>T, NM_001159702.2:c.441C>T, NM_001159703.1:c.441C>T, NM_001159704.1:c.441C>T, NM_001167819.1:c.441C>T, NM_001449.3:c.441C>T, NM_001449.4:c.441C>T, NR_027621.1:n.852C>TBenign11/04/2015 
35FHL1Ex5NM_001449.4:c.446_448delACTLRG_739t1:c.446_448delACT, LRG_739t2:c.446_448delACT, NM_001159699.1:c.494_496delACT, NM_001159700.1:c.446_448delACT, NM_001159701.1:c.533_535delACT, NM_001159702.2:c.446_448delACT, NM_001159703.1:c.446_448delACT, NM_001159704.1:c.446_448delACT, NM_001167819.1:c.446_448delACT, NM_001449.3:c.446_448delACT, NM_001449.4:c.446_448delACT, NR_027621.1:n.857_859delACTVOUS07/25/2016
36FHL1Ex5NM_001449.4:c.450C>Tp.Cys150= | p.C150=NM_001159699.1:c.498C>T, NM_001159700.1:c.450C>T, NM_001159701.1:c.537C>T, NM_001159702.2:c.450C>T, NM_001159703.1:c.450C>T, NM_001159704.1:c.450C>T, NM_001167819.1:c.450C>T, NM_001449.3:c.450C>T, NM_001449.4:c.450C>T, NR_027621.1:n.861C>TBenign11/10/2015 
37FHL1Ex5NM_001449.4:c.457T>Gp.Cys153Gly | p.C153GLRG_739t1:c.457T>G, LRG_739t2:c.457T>G, NM_001159699.1:c.505T>G, NM_001159700.1:c.457T>G, NM_001159701.1:c.544T>G, NM_001159702.2:c.457T>G, NM_001159703.1:c.457T>G, NM_001159704.1:c.457T>G, NM_001167819.1:c.457T>G, NM_001449.3:c.457T>G, NM_001449.4:c.457T>G, NR_027621.1:n.868T>GVOUS05/25/2018
38FHL1Ex5NM_001449.4:c.481C>Tp.His161Tyr | p.H161YLRG_739t1:c.481C>T, LRG_739t2:c.481C>T, NM_001159699.1:c.529C>T, NM_001159700.1:c.481C>T, NM_001159701.1:c.568C>T, NM_001159702.2:c.481C>T, NM_001159703.1:c.481C>T, NM_001159704.1:c.481C>T, NM_001167819.1:c.481C>T, NM_001449.3:c.481C>T, NM_001449.4:c.481C>T, NR_027621.1:n.892C>TVOUS08/23/2018
39FHL1Ex5NM_001449.4:c.486C>Gp.Cys162Trp | p.C162WLRG_739t1:c.486C>G, LRG_739t2:c.486C>G, NM_001159699.1:c.534C>G, NM_001159700.1:c.486C>G, NM_001159701.1:c.573C>G, NM_001159702.2:c.486C>G, NM_001159703.1:c.486C>G, NM_001159704.1:c.486C>G, NM_001167819.1:c.486C>G, NM_001449.3:c.486C>G, NM_001449.4:c.486C>G, NR_027621.1:n.897C>GVOUS03/01/2016
40FHL1Ex6NM_001449.4:c.596G>Ap.Arg199His | p.R199HNM_001159699.1:c.644G>A, NM_001159700.1:c.596G>A, NM_001159701.1:c.683G>A, NM_001159702.2:c.596G>A, NM_001159703.1:c.501+588G>A, NM_001159704.1:c.596G>A, NM_001167819.1:c.596G>A, NM_001173517.1:c.*6497C>T, NM_001449.3:c.596G>A, NM_001449.4:c.596G>A, NR_027621.1:n.1007G>AVOUS12/15/2015
41FHL1Ex6NM_001449.4:c.672C>Gp.Cys224Trp | p.C224WLRG_739t1:c.672C>G, LRG_739t2:c.672C>G, NM_001159699.1:c.720C>G, NM_001159700.1:c.672C>G, NM_001159701.1:c.759C>G, NM_001159702.2:c.672C>G, NM_001159703.1:c.501+664C>G, NM_001159704.1:c.672C>G, NM_001167819.1:c.672C>G, NM_001173517.1:c.*6421G>C, NM_001449.3:c.672C>G, NM_001449.4:c.672C>G, NR_027621.1:n.1083C>GPathogenic03/23/2016 
42FHL1Ex7NM_001449.4:c.689-13T>CNM_001159699.1:c.737-13T>C, NM_001159700.1:c.689-13T>C, NM_001159701.1:c.776-13T>C, NM_001159702.2:c.889-13T>C, NM_001159703.1:c.502-13T>C, NM_001159704.1:c.689-13T>C, NM_001167819.1:c.689-13T>C, NM_001173517.1:c.*5188A>G, NM_001449.3:c.689-13T>C, NM_001449.4:c.689-13T>C, NR_027621.1:n.1100-13T>CBenign05/22/2015 
43FHL1Ex7NM_001449.4:c.689-9dupTNM_001159699.1:c.737-9_737-8insT, NM_001159700.1:c.689-9_689-8insT, NM_001159701.1:c.776-9_776-8insT, NM_001159702.2:c.889-9_889-8insT, NM_001159703.1:c.502-9_502-8insT, NM_001159704.1:c.689-9_689-8insT, NM_001167819.1:c.689-9_689-8insT, NM_001173517.1:c.*5183_*5184insA, NM_001449.3:c.689-9_689-8insT, NM_001449.4:c.689-9_689-8insT, NR_027621.1:n.1100-9_1100-8insTBenign12/05/2015 
44FHL1Ex7NM_001449.4:c.689-9delTLRG_739t1:c.889-9delT, LRG_739t2:c.689-9delT, NM_001159699.1:c.737-9delT, NM_001159700.1:c.689-9delT, NM_001159701.1:c.776-9delT, NM_001159702.2:c.889-9delT, NM_001159703.1:c.502-9delT, NM_001159704.1:c.689-9delT, NM_001167819.1:c.689-9delT, NM_001173517.1:c.*5184delA, NM_001449.3:c.689-9delT, NM_001449.4:c.689-9delT, NR_027621.1:n.1100-9delTVOUS06/01/2016
45FHL1Ex7NM_001449.4:c.689-9T>CLRG_739t1:c.889-9T>C, LRG_739t2:c.689-9T>C, NM_001159699.1:c.737-9T>C, NM_001159700.1:c.689-9T>C, NM_001159701.1:c.776-9T>C, NM_001159702.2:c.889-9T>C, NM_001159703.1:c.502-9T>C, NM_001159704.1:c.689-9T>C, NM_001167819.1:c.689-9T>C, NM_001173517.1:c.*5184A>G, NM_001449.3:c.689-9T>C, NM_001449.4:c.689-9T>C, NR_027621.1:n.1100-9T>CVOUS04/05/2018
46FHL1Ex7NM_001449.4:c.689-8C>TNM_001159699.1:c.737-8C>T, NM_001159700.1:c.689-8C>T, NM_001159701.1:c.776-8C>T, NM_001159702.2:c.889-8C>T, NM_001159703.1:c.502-8C>T, NM_001159704.1:c.689-8C>T, NM_001167819.1:c.689-8C>T, NM_001173517.1:c.*5183G>A, NM_001449.3:c.689-8C>T, NM_001449.4:c.689-8C>T, NR_027621.1:n.1100-8C>TBenign06/22/2015 
47FHL1Ex7NM_001449.4:c.689-3delCNM_001159699.1:c.737-3delC, NM_001159700.1:c.689-3delC, NM_001159701.1:c.776-3delC, NM_001159702.2:c.889-3delC, NM_001159703.1:c.502-3delC, NM_001159704.1:c.689-3delC, NM_001167819.1:c.689-3delC, NM_001173517.1:c.*5178delG, NM_001449.3:c.689-3delC, NM_001449.4:c.689-3delC, NR_027621.1:n.1100-3delCLikely benign11/07/2014 
48FHL1Ex7NM_001449.4:c.737_745dupACGACTACTp.Tyr248_Cys249insTyrAspTyr | p.Y248_C249insYDYLRG_739t1:c.937_945dupACGACTACT, LRG_739t2:c.737_745dupACGACTACT, NM_001159699.1:c.785_793dupACGACTACT, NM_001159700.1:c.737_745dupACGACTACT, NM_001159701.1:c.824_832dupACGACTACT, NM_001159702.2:c.937_945dupACGACTACT, NM_001159703.1:c.550_558dupACGACTACT, NM_001159704.1:c.737_745dupACGACTACT, NM_001167819.1:c.737_745dupACGACTACT, NM_001173517.1:c.*5119_*5127dupAGTAGTCGT, NM_001449.3:c.737_745dupACGACTACT, NM_001449.4:c.737_745dupACGACTACT, NR_027621.1:n.1148_1156dupACGACTACTVOUS07/05/2018
49FHL1Ex7NM_001449.4:c.738C>Tp.His246= | p.H246=NM_001159699.1:c.786C>T, NM_001159700.1:c.738C>T, NM_001159701.1:c.825C>T, NM_001159702.2:c.938C>T, NM_001159703.1:c.551C>T, NM_001159704.1:c.738C>T, NM_001167819.1:c.738C>T, NM_001173517.1:c.*5126G>A, NM_001449.3:c.738C>T, NM_001449.4:c.738C>T, NR_027621.1:n.1149C>TLikely benign11/09/2015 
50FHL1Ex7NM_001449.4:c.739G>Ap.Asp247Asn | p.D247NNM_001159699.1:c.787G>A, NM_001159700.1:c.739G>A, NM_001159701.1:c.826G>A, NM_001159702.2:c.939G>A, NM_001159703.1:c.552G>A, NM_001159704.1:c.739G>A, NM_001167819.1:c.739G>A, NM_001173517.1:c.*5125C>T, NM_001449.3:c.739G>A, NM_001449.4:c.739G>A, NR_027621.1:n.1150G>AVOUS11/26/2014
51FHL1Ex7NM_001449.4:c.764G>Cp.Cys255Ser | p.C255SNM_001159699.1:c.812G>C, NM_001159700.1:c.764G>C, NM_001159701.1:c.851G>C, NM_001159702.2:c.964G>C, NM_001159703.1:c.577G>C, NM_001159704.1:c.764G>C, NM_001167819.1:c.764G>C, NM_001173517.1:c.*5100C>G, NM_001449.3:c.764G>C, NM_001449.4:c.764G>C, NR_027621.1:n.1175G>CVOUS01/22/2016
52FHL1Ex7NM_001449.4:c.793_796dupGTTTp.Phe266Cysfs*19 | p.F266CfsX19LRG_739t1:c.*21_*24dupGTTT, LRG_739t2:c.793_796dupGTTT, NM_001159699.1:c.841_844dupGTTT, NM_001159700.1:c.793_796dupGTTT, NM_001159701.1:c.880_883dupGTTT, NM_001159702.2:c.*21_*24dupGTTT, NM_001159703.1:c.*21_*24dupGTTT, NM_001159704.1:c.793_796dupGTTT, NM_001167819.1:c.793_796dupGTTT, NM_001173517.1:c.*5068_*5071dupAAAC, NM_001449.3:c.793_796dupGTTT, NM_001449.4:c.793_796dupGTTT, NR_027621.1:n.1204_1207dupGTTTLikely pathogenic09/14/2018 
53FHL1Ex7NM_001449.4:c.813G>Tp.Val271= | p.V271=NM_001159699.1:c.861G>T, NM_001159700.1:c.813G>T, NM_001159701.1:c.900G>T, NM_001159702.2:c.*41G>T, NM_001159703.1:c.*41G>T, NM_001159704.1:c.813G>T, NM_001167819.1:c.813G>T, NM_001173517.1:c.*5051C>A, NM_001449.3:c.813G>T, NM_001449.4:c.813G>T, NR_027621.1:n.1224G>TVOUS02/05/2016
54FHL1Ex7NM_001449.4:c.815A>Tp.Tyr272Phe | p.Y272FLRG_739t1:c.*43A>T, LRG_739t2:c.815A>T, NM_001159699.1:c.863A>T, NM_001159700.1:c.815A>T, NM_001159701.1:c.902A>T, NM_001159702.2:c.*43A>T, NM_001159703.1:c.*43A>T, NM_001159704.1:c.815A>T, NM_001167819.1:c.815A>T, NM_001173517.1:c.*5049T>A, NM_001449.3:c.815A>T, NM_001449.4:c.815A>T, NR_027621.1:n.1226A>TVOUS11/29/2018
55FHL1Ex7NM_001449.4:c.823G>Ap.Asp275Asn | p.D275NNM_001159699.1:c.871G>A, NM_001159700.1:c.823G>A, NM_001159701.1:c.910G>A, NM_001159702.2:c.*51G>A, NM_001159703.1:c.*51G>A, NM_001159704.1:c.823G>A, NM_001167819.1:c.823G>A, NM_001173517.1:c.*5041C>T, NM_001449.3:c.823G>A, NM_001449.4:c.823G>A, NR_027621.1:n.1234G>ABenign12/03/2015 

* Review is pending
** Variant has not been reviewed since the launch of this product (6/15/2012)

URL Parameter Syntax

EmVClass may be automatically searched using the argument [approved_symbol] such as in the example link for the gene CFTR: https://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR

Download

EmVClass data for all genes and variants that have been seen and analyzed by NTD Genetics may be downloaded as a CSV plain text file which is designated to be updated quarterly. Data is subject to change and format is subject to modification.

EmVClass.2021-Q4.csv

Disclaimer

The interpretation of nucleotide changes is based on our current understanding of the variant at the time it was observed in a clinical case. Interpretations may not be current. Some data may not be represented. These interpretations may change over time as more information about the genes becomes available. The data presented here are not intended for clinical use outside of the context of an official NTD Genetics clinical report and should be approached with caution. Only variants identified at NTD Genetics are listed in the EmVClass. If you intend to use NTD Genetics' classification for publication purposes please contact the laboratory for permission.