Total 31 pathogenic variants reported for Sialidosis type 2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000434.4(NEU1):c.272T>G (p.Leu91Arg) SNV
Germline		 Chr6:31862079 Pathogenic Sialidosis type 2 No Assertion Criteria Provided
 CA212557 rs_104893972

1 SubmittersRCV000002548
NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr) SNV
Germline		 Chr6:31860458 Pathogenic Sialidosis type 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA212558 rs_104893977

2 SubmittersRCV000002550RCV000814380
NM_000434.4(NEU1):c.1088T>C (p.Leu363Pro) SNV
Germline		 Chr6:31859879 Likely pathogenic Sialidosis type 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA212559 rs_193922915

2 SubmittersRCV000002551RCV003555898
NM_000434.4(NEU1):c.87G>A (p.Trp29Ter) SNV
Germline		 Chr6:31862690 Pathogenic Sialidosis type 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA212560 rs_104893984

2 SubmittersRCV000002555RCV003555899
NM_000434.4(NEU1):c.239C>T (p.Pro80Leu) SNV
Germline		 Chr6:31862112 Pathogenic Sialidosis type 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA212562 rs_104893985

2 SubmittersRCV000002556RCV003555900
NM_000434.4(NEU1):c.718T>C (p.Trp240Arg) SNV
Germline		 Chr6:31860519 Pathogenic Sialidosis type 2 No Assertion Criteria Provided
 CA212563 rs_104893978

1 SubmittersRCV000002557
NM_000434.4(NEU1):c.1021+1G>C SNV
Germline		 Chr6:31860041 Pathogenic Sialidosis type 2
Condition: not provided		 Criteria Provided
Single Submitter
 rs_1486980139

2 SubmittersRCV000002559RCV001851585
NM_000434.4(NEU1):c.674G>C (p.Arg225Pro) SNV
Germline		 Chr6:31860563 Pathogenic Sialidosis type 2 No Assertion Criteria Provided
 CA212564 rs_104893980

1 SubmittersRCV000002560
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) SNV
Germline		 Chr6:31860170 Likely pathogenic Sialidosis type 2
Condition: not provided
Sialidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA212565 rs_104893981

4 SubmittersRCV000002561RCV001314931RCV003323347
NM_000434.4(NEU1):c.69G>A (p.Trp23Ter) SNV
Germline		 Chr6:31862708 Pathogenic Sialidosis type 2
Condition: not provided
NEU1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA212566 rs_104893986

3 SubmittersRCV000002562RCV003555901RCV003964788
NM_000434.4(NEU1):c.1170C>G (p.Tyr390Ter) SNV
Germline		 Chr6:31859797 Pathogenic Non-immune hydrops fetalis
Sialidosis type 2		 No Assertion Criteria Provided
 CA212720 rs_746607723

1 SubmittersRCV000202594
NM_000434.4(NEU1):c.353-2A>G SNV
Germline		 Chr6:31861452 Pathogenic Non-immune hydrops fetalis
Sialidosis type 2		 No Assertion Criteria Provided
 CA213394 rs_864309513

1 SubmittersRCV000202579
NM_000434.4(NEU1):c.1107C>A (p.Gly369=) SNV
Germline		 Chr6:31859860 Conflicting classifications of pathogenicity Sialidosis type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3724874 rs_150864071

2 SubmittersRCV000314408RCV002058582
NM_000434.4(NEU1):c.888T>C (p.Tyr296=) SNV
Germline		 Chr6:31860175 Conflicting classifications of pathogenicity Sialidosis type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3724929 rs_754422982

2 SubmittersRCV000395474RCV002058583
NM_000434.4(NEU1):c.799-4T>C SNV
Germline		 Chr6:31860268 Conflicting classifications of pathogenicity Sialidosis type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3724946 rs_759065536

2 SubmittersRCV000313171RCV002058584
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) SNV
Germline		 Chr6:31860558 Pathogenic Condition: not provided
Sialidosis
Sialidosis type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3724984 rs_769765227

8 SubmittersRCV000494284RCV000587143RCV001805111
NM_000434.4(NEU1):c.615G>A (p.Gln205=) SNV
Germline		 Chr6:31861188 Conflicting classifications of pathogenicity Condition: not provided
Sialidosis type 2		 Criteria Provided
Conflicting Classifications
 CA3725011 rs_781137251

3 SubmittersRCV000596238RCV002470921
NM_000434.4(NEU1):c.408G>A (p.Gly136=) SNV
Germline		 Chr6:31861395 Conflicting classifications of pathogenicity Condition: not provided
Sialidosis type 2		 Criteria Provided
Conflicting Classifications
 rs_41267074

4 SubmittersRCV000675980RCV001153767
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter) SNV
Germline		 Chr6:31862732 Conflicting classifications of pathogenicity Sialidosis type 2
Condition: not provided
Sialidosis		 Criteria Provided
Conflicting Classifications
 rs_768711214

3 SubmittersRCV000778785RCV001204075RCV002234170
NM_000434.4(NEU1):c.432C>T (p.Ser144=) SNV
Germline		 Chr6:31861371 Conflicting classifications of pathogenicity Condition: not provided
Sialidosis type 2		 Criteria Provided
Conflicting Classifications
 rs_114405905

3 SubmittersRCV000889371RCV001153766
NM_000434.4(NEU1):c.402C>T (p.Pro134=) SNV
Germline		 Chr6:31861401 Conflicting classifications of pathogenicity Condition: not provided
Sialidosis type 2		 Criteria Provided
Conflicting Classifications
 rs_142833447

3 SubmittersRCV000891246RCV001156383
NM_000434.4(NEU1):c.1170C>T (p.Tyr390=) SNV
Germline		 Chr6:31859797 Conflicting classifications of pathogenicity Sialidosis type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_746607723

2 SubmittersRCV001152490RCV002070851
NM_000434.4(NEU1):c.1089A>G (p.Leu363=) SNV
Germline		 Chr6:31859878 Conflicting classifications of pathogenicity Sialidosis type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_757684373

2 SubmittersRCV001152491RCV003546659
NM_000434.4(NEU1):c.249A>C (p.Thr83=) SNV
Germline		 Chr6:31862102 Conflicting classifications of pathogenicity Sialidosis type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_954742285

2 SubmittersRCV001156384RCV002070922
NM_000434.4(NEU1):c.1109A>G (p.Tyr370Cys) SNV
Germline		 Chr6:31859858 Pathogenic Sialidosis type 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1310267862

2 SubmittersRCV001293240RCV002542852
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) SNV
Germline		 Chr6:31860042 Pathogenic/Likely pathogenic Sialidosis
Sialidosis type 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_751458617

3 SubmittersRCV001293567RCV002499537RCV003574876
NM_000434.4(NEU1):c.238C>A (p.Pro80Thr) SNV
Germline		 Chr6:31862113 Likely pathogenic Sialidosis type 2 Criteria Provided
Single Submitter
 rs_1762543434

1 SubmittersRCV001782519
NM_000434.4(NEU1):c.887A>G (p.Tyr296Cys) SNV
Germline		 Chr6:31860176 Likely pathogenic Sialidosis type 2 Criteria Provided
Single Submitter
 rs_2151544199

1 SubmittersRCV001806380