ClinVar Miner

List of variants in gene MFSD8 reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
Download table as spreadsheet
HGVS dbSNP
NC_000004.11:g.(?_128851818)_(128886308_?)dup
NC_000004.11:g.(?_128851838)_(128886363_?)dup
NC_000004.12:g.(?_127920610)_(127965153_?)dup
NM_001371596.2(MFSD8):c.*1147G>A
NM_001371596.2(MFSD8):c.*1455G>A
NM_001371596.2(MFSD8):c.*1680A>G
NM_001371596.2(MFSD8):c.*1709G>C
NM_001371596.2(MFSD8):c.*1918T>C
NM_001371596.2(MFSD8):c.*1969G>C
NM_001371596.2(MFSD8):c.*2006A>C
NM_001371596.2(MFSD8):c.*2010T>C
NM_001371596.2(MFSD8):c.*2021C>T
NM_001371596.2(MFSD8):c.*2104T>C
NM_001371596.2(MFSD8):c.*2146A>G
NM_001371596.2(MFSD8):c.*2294G>A
NM_001371596.2(MFSD8):c.*2309G>A
NM_001371596.2(MFSD8):c.*2314G>A
NM_001371596.2(MFSD8):c.*2369C>G
NM_001371596.2(MFSD8):c.*250G>A
NM_001371596.2(MFSD8):c.*2592A>G
NM_001371596.2(MFSD8):c.*369G>A
NM_001371596.2(MFSD8):c.*734A>G
NM_001371596.2(MFSD8):c.*842T>G
NM_001371596.2(MFSD8):c.1040T>C (p.Val347Ala)
NM_001371596.2(MFSD8):c.1120A>G (p.Ile374Val)
NM_001371596.2(MFSD8):c.1234_1235inv (p.Pro412Gly)
NM_001371596.2(MFSD8):c.1270G>A (p.Val424Met)
NM_001371596.2(MFSD8):c.1280G>A (p.Gly427Glu)
NM_001371596.2(MFSD8):c.136A>G (p.Met46Val)
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp)
NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu)
NM_001371596.2(MFSD8):c.1448G>A (p.Trp483Ter)
NM_001371596.2(MFSD8):c.14G>A (p.Arg5Gln)
NM_001371596.2(MFSD8):c.156G>T (p.Gly52=)
NM_001371596.2(MFSD8):c.170T>C (p.Met57Thr)
NM_001371596.2(MFSD8):c.187T>C (p.Tyr63His)
NM_001371596.2(MFSD8):c.221G>C (p.Ser74Thr)
NM_001371596.2(MFSD8):c.23G>C (p.Ser8Thr)
NM_001371596.2(MFSD8):c.240T>G (p.Ile80Met)
NM_001371596.2(MFSD8):c.305C>T (p.Pro102Leu)
NM_001371596.2(MFSD8):c.309A>T (p.Arg103Ser)
NM_001371596.2(MFSD8):c.362A>C (p.Tyr121Ser)
NM_001371596.2(MFSD8):c.403A>G (p.Met135Val)
NM_001371596.2(MFSD8):c.431T>C (p.Ile144Thr)
NM_001371596.2(MFSD8):c.475G>T (p.Ala159Ser)
NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val)
NM_001371596.2(MFSD8):c.553G>C (p.Val185Leu)
NM_001371596.2(MFSD8):c.566G>A (p.Cys189Tyr)
NM_001371596.2(MFSD8):c.578T>A (p.Leu193His)
NM_001371596.2(MFSD8):c.675T>C (p.Ile225=)
NM_001371596.2(MFSD8):c.754G>T (p.Ala252Ser)
NM_001371596.2(MFSD8):c.767A>C (p.Glu256Ala)
NM_001371596.2(MFSD8):c.770C>T (p.Ala257Val)
NM_001371596.2(MFSD8):c.778C>T (p.Pro260Ser)
NM_001371596.2(MFSD8):c.7G>A (p.Gly3Ser)
NM_001371596.2(MFSD8):c.910C>A (p.Gln304Lys)
NM_001371596.2(MFSD8):c.931A>G (p.Ile311Val)
NM_001371596.2(MFSD8):c.958G>C (p.Ala320Pro)
NM_001371596.2(MFSD8):c.964G>A (p.Val322Ile)
NM_001371596.2(MFSD8):c.998+13T>C
NM_152778.3(MFSD8):c.*1058A>G rs531103173
NM_152778.3(MFSD8):c.*1161A>C rs767418097
NM_152778.3(MFSD8):c.*1471T>C rs886059066
NM_152778.3(MFSD8):c.*1603C>T rs536079775
NM_152778.3(MFSD8):c.*208C>T rs886059069
NM_152778.3(MFSD8):c.*2214A>G rs886059065
NM_152778.3(MFSD8):c.*2270G>C rs886059064
NM_152778.3(MFSD8):c.*2613T>C rs539367239
NM_152778.3(MFSD8):c.*2683C>T rs886059063
NM_152778.3(MFSD8):c.*414C>A rs566768714
NM_152778.3(MFSD8):c.*463A>T rs181696565
NM_152778.3(MFSD8):c.*695A>G rs886059068
NM_152778.3(MFSD8):c.*839C>A rs886059067
NM_152778.3(MFSD8):c.1006G>A (p.Glu336Lys) rs150418024
NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_152778.3(MFSD8):c.1036G>A (p.Val346Ile) rs746209973
NM_152778.3(MFSD8):c.1040dup (p.Trp348fs) rs1560718555
NM_152778.3(MFSD8):c.1066C>A (p.Pro356Thr) rs756204684
NM_152778.3(MFSD8):c.1093C>T (p.Gln365Ter) rs904329013
NM_152778.3(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852
NM_152778.3(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038
NM_152778.3(MFSD8):c.115A>G (p.Ile39Val) rs201739608
NM_152778.3(MFSD8):c.115A>T (p.Ile39Phe) rs201739608
NM_152778.3(MFSD8):c.1205C>T (p.Ser402Leu) rs200745039
NM_152778.3(MFSD8):c.1262C>T (p.Thr421Ile) rs765587961
NM_152778.3(MFSD8):c.1278A>G (p.Ile426Met) rs769272117
NM_152778.3(MFSD8):c.1287C>T (p.Gly429=) rs138072045
NM_152778.3(MFSD8):c.1322A>G (p.Tyr441Cys) rs749153763
NM_152778.3(MFSD8):c.1403G>A (p.Gly468Glu) rs1560715852
NM_152778.3(MFSD8):c.1408A>G (p.Met470Val) rs764549054
NM_152778.3(MFSD8):c.1429G>A (p.Ala477Thr) rs878855229
NM_152778.3(MFSD8):c.1445G>A (p.Arg482Gln) rs547726489
NM_152778.3(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_152778.3(MFSD8):c.1475T>C (p.Ile492Thr) rs183448311
NM_152778.3(MFSD8):c.151G>T (p.Val51Leu) rs1408300356
NM_152778.3(MFSD8):c.1521T>G (p.Ile507Met) rs779560159
NM_152778.3(MFSD8):c.161del (p.Ser54fs) rs1560764227
NM_152778.3(MFSD8):c.173T>C (p.Met58Thr) rs1578944380
NM_152778.3(MFSD8):c.18C>G (p.Asn6Lys) rs771879274
NM_152778.3(MFSD8):c.206C>T (p.Pro69Leu) rs147750747
NM_152778.3(MFSD8):c.218C>T (p.Thr73Ile) rs377555060
NM_152778.3(MFSD8):c.268G>C (p.Ala90Pro) rs1553950970
NM_152778.3(MFSD8):c.288A>G (p.Leu96=) rs1008821019
NM_152778.3(MFSD8):c.291G>C (p.Trp97Cys) rs796052749
NM_152778.3(MFSD8):c.316C>T (p.Pro106Ser) rs757793193
NM_152778.3(MFSD8):c.32A>G (p.Glu11Gly) rs1485138561
NM_152778.3(MFSD8):c.343G>A (p.Val115Met) rs183450731
NM_152778.3(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_152778.3(MFSD8):c.373C>T (p.His125Tyr) rs1560754109
NM_152778.3(MFSD8):c.37C>G (p.Leu13Val) rs150892838
NM_152778.3(MFSD8):c.37C>T (p.Leu13Phe) rs150892838
NM_152778.3(MFSD8):c.401A>G (p.Tyr134Cys) rs1242219330
NM_152778.3(MFSD8):c.409G>A (p.Val137Ile) rs146479250
NM_152778.3(MFSD8):c.421T>C (p.Leu141=) rs778330834
NM_152778.3(MFSD8):c.436G>A (p.Ala146Thr) rs755152088
NM_152778.3(MFSD8):c.529G>A (p.Ala177Thr) rs1560751131
NM_152778.3(MFSD8):c.576C>G (p.Phe192Leu) rs777020801
NM_152778.3(MFSD8):c.592G>A (p.Val198Met) rs377029630
NM_152778.3(MFSD8):c.5C>T (p.Ala2Val) rs867524398
NM_152778.3(MFSD8):c.63A>C (p.Arg21Ser) rs201926015
NM_152778.3(MFSD8):c.652G>A (p.Ala218Thr) rs368614789
NM_152778.3(MFSD8):c.656T>C (p.Phe219Ser) rs112734134
NM_152778.3(MFSD8):c.677T>C (p.Ile226Thr) rs200591471
NM_152778.3(MFSD8):c.689C>T (p.Ala230Val) rs375681665
NM_152778.3(MFSD8):c.699-5T>G rs751010275
NM_152778.3(MFSD8):c.704A>T (p.His235Leu) rs886059070
NM_152778.3(MFSD8):c.706C>T (p.Arg236Cys) rs758002981
NM_152778.3(MFSD8):c.707G>A (p.Arg236His) rs371250204
NM_152778.3(MFSD8):c.776T>A (p.Val259Asp) rs1553947509
NM_152778.3(MFSD8):c.809T>C (p.Val270Ala) rs200284184
NM_152778.3(MFSD8):c.832G>A (p.Val278Met) rs796052743
NM_152778.3(MFSD8):c.863C>T (p.Thr288Ile) rs755384900
NM_152778.3(MFSD8):c.886G>A (p.Asp296Asn) rs147295085
NM_152778.3(MFSD8):c.929G>A (p.Gly310Asp) rs118203975
NM_152778.3(MFSD8):c.934A>G (p.Ile312Val) rs77098161
NM_152778.3(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_152778.3(MFSD8):c.961G>A (p.Val321Ile) rs76506918
NM_152778.3(MFSD8):c.998+4A>G rs796052745
NM_152778.3(MFSD8):c.999G>C (p.Lys333Asn) rs1057520312

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.