ClinVar Miner

List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis 7 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP
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.1280G>A (p.Gly427Glu)
NM_001371596.2(MFSD8):c.136A>G (p.Met46Val)
NM_001371596.2(MFSD8):c.675T>C (p.Ile225=)
NM_001371596.2(MFSD8):c.7G>A (p.Gly3Ser)
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>C (p.Glu336Gln) rs150418024
NM_152778.3(MFSD8):c.1040dup (p.Trp348fs) rs1560718555
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.1205C>T (p.Ser402Leu) rs200745039
NM_152778.3(MFSD8):c.1287C>T (p.Gly429=) rs138072045
NM_152778.3(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_152778.3(MFSD8):c.161del (p.Ser54fs) rs1560764227
NM_152778.3(MFSD8):c.206C>T (p.Pro69Leu) rs147750747
NM_152778.3(MFSD8):c.288A>G (p.Leu96=) rs1008821019
NM_152778.3(MFSD8):c.37C>G (p.Leu13Val) rs150892838
NM_152778.3(MFSD8):c.421T>C (p.Leu141=) rs778330834
NM_152778.3(MFSD8):c.704A>T (p.His235Leu) rs886059070
NM_152778.3(MFSD8):c.934A>G (p.Ile312Val) rs77098161

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.