List of variants reported as uncertain significance for neuronal ceroid lipofuscinosis by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 61

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)	rs138976576	0.00133
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)	rs3743088	0.00042
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)	rs767164948	0.00006
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	rs386833646	0.00005
NM_000391.4(TPP1):c.225A>G (p.Gln75=)	rs368709098	0.00004
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu)	rs587780316	0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His)	rs374681194	0.00004
NM_000391.4(TPP1):c.887-18A>G	rs935526225	0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)	rs886285802	0.00003
NM_017882.3(CLN6):c.446G>A (p.Arg149His)	rs154774638	0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg)	rs149308952	0.00003
NC_000013.11:g.76991952A>C	rs1268502139	0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)	rs386833640	0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)	rs154774634	0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)	rs763944821	0.00002
NM_000310.4(PPT1):c.529_530insATCG	rs1475500814	0.00001
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)	rs386833639	0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)	rs746043871	0.00001
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg)	rs1348967263	0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)	rs796052338	0.00001
NM_001042432.2(CLN3):c.837+5G>A	rs756848924	0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)	rs786205211	0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)	rs148862100	0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)	rs1451777867	0.00001
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys)	rs796052352	0.00001
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys)	rs750081097	0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)	rs750937323	0.00001
NM_018941.4(CLN8):c.611G>A (p.Arg204His)	rs386834134	0.00001
NC_000013.11:g.76991953T>A	rs201615354
NM_000310.4(PPT1):c.521_532dup	rs1553166026
NM_000310.4(PPT1):c.529_530insAGCA	rs1553166029
NM_000310.4(PPT1):c.529_530insGTCA	rs1553166030
NM_000310.4(PPT1):c.175_177del (p.Glu59del)	rs1553167495
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del)	rs1554901785
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)	rs1554901784
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer)	rs763961289
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro)	rs1554902028
NM_000391.4(TPP1):c.508+2dup	rs1554902017
NM_000391.4(TPP1):c.731T>C (p.Met244Thr)	rs1554901895
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro)	rs796053439
NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del)	rs796052340
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)	rs748844685
NM_006493.2(CLN5):c.1A>G (p.Met1Val)	rs1268502139
NM_006493.4(CLN5):c.-7C>A	rs1555273557
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs)	rs1555274391
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs)	rs1555274402
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup)	rs1555273571
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])	rs1409904698
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del)	rs1555274012
NM_006493.4(CLN5):c.565+2dup	rs1476787722
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)	rs154774635
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del)	rs886051447
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)	rs772893554
NM_017882.3(CLN6):c.443T>A (p.Val148Asp)	rs1555438678
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro)	rs1344658850
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu)	rs1555438267
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys)	rs150363441
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter)	rs1448520404
NM_018941.4(CLN8):c.-123-1G>C	rs1554448791
NM_018941.4(CLN8):c.-131_-124+13del	rs1554446821
NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter)	rs1554451561

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.