ClinVar Miner

List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NM_006493.2(CLN5):c.-8G>A rs772316134
NM_006493.2(CLN5):c.127G>A (p.Gly43Arg) rs529998879
NM_006493.2(CLN5):c.1A>C (p.Met1Leu) rs1268502139
NM_006493.2(CLN5):c.1A>G (p.Met1Val) rs1268502139
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg) rs762873839
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) rs201615354
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_006493.4(CLN5):c.*1169T>C rs573398552
NM_006493.4(CLN5):c.*1490A>G
NM_006493.4(CLN5):c.*163G>A
NM_006493.4(CLN5):c.*177A>C rs568174799
NM_006493.4(CLN5):c.*263A>T
NM_006493.4(CLN5):c.*468G>C
NM_006493.4(CLN5):c.*609A>G
NM_006493.4(CLN5):c.*614C>T
NM_006493.4(CLN5):c.*636A>G
NM_006493.4(CLN5):c.*721G>A rs145949751
NM_006493.4(CLN5):c.*833C>T
NM_006493.4(CLN5):c.*954T>C rs886050317
NM_006493.4(CLN5):c.*963T>G
NM_006493.4(CLN5):c.*975G>A
NM_006493.4(CLN5):c.-4C>T rs587780896
NM_006493.4(CLN5):c.-7C>A rs1555273557
NM_006493.4(CLN5):c.-8G>A
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr) rs745767054
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs) rs1555274391
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs) rs1555274402
NM_006493.4(CLN5):c.133T>C (p.Ser45Pro)
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg) rs1593910113
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup) rs1555273571
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959
NM_006493.4(CLN5):c.47_52GCGCGG[3] (p.16_17GA[3]) rs1409904698
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del) rs1555274012
NM_006493.4(CLN5):c.565+2dup rs1476787722
NM_006493.4(CLN5):c.566-7A>G rs772501269
NM_006493.4(CLN5):c.572T>C (p.Met191Thr)
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp) rs376454715
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile)
NM_006493.4(CLN5):c.806T>G (p.Leu269Arg)
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser) rs199609750
NM_006493.4(CLN5):c.864A>G (p.Ile288Met)
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100

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.