Total 47 pathogenic variants reported for Deficiency of hyaluronoglucosaminidase 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln) SNV
Germline		 Chr3:50300499 Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase
not specified		 Criteria Provided
Conflicting Classifications
 CA2415689 rs_368957453

4 SubmittersRCV000346452RCV004021924
NM_033159.4(HYAL1):c.846G>A (p.Pro282=) SNV
Germline		 Chr3:50302111 Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase Criteria Provided
Conflicting Classifications
 CA2415856 rs_782094366

2 SubmittersRCV000363589
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=) SNV
Germline		 Chr3:50302327 Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase Criteria Provided
Conflicting Classifications
 CA2415902 rs_781838448

2 SubmittersRCV000314860
NM_033159.4(HYAL1):c.600C>A (p.Gly200=) SNV
Germline		 Chr3:50302357 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of hyaluronoglucosaminidase		 Criteria Provided
Conflicting Classifications
 rs_374928005

3 SubmittersRCV000730485RCV001080067
NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter) SNV
Germline		 Chr3:50302824 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter
 rs_1575517577

1 SubmittersRCV000797408
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) SNV
Germline		 Chr3:50300750 Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase Criteria Provided
Conflicting Classifications
 rs_377105091

3 SubmittersRCV000917360
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=) SNV
Germline		 Chr3:50300615 Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase Criteria Provided
Conflicting Classifications
 rs_587680396

2 SubmittersRCV001146639
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=) SNV
Germline		 Chr3:50300744 Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase Criteria Provided
Conflicting Classifications
 rs_782279681

2 SubmittersRCV001146641
NM_033159.4(HYAL1):c.168C>T (p.Phe56=) SNV
Germline		 Chr3:50302789 Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase Criteria Provided
Conflicting Classifications
 rs_369935445

2 SubmittersRCV001150877
NM_033159.4(HYAL1):c.441C>G (p.Tyr147Ter) SNV
Germline		 Chr3:50302516 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter
 rs_1702209886

1 SubmittersRCV001210913
NM_033159.4(HYAL1):c.773C>G (p.Ser258Ter) SNV
Germline		 Chr3:50302184 Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase
HYAL1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_782355058

2 SubmittersRCV001227573RCV003398977
NM_033159.4(HYAL1):c.621C>A (p.Cys207Ter) SNV
Germline		 Chr3:50302336 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter
 rs_1702200130

1 SubmittersRCV001237761
NM_033159.4(HYAL1):c.787C>T (p.Gln263Ter) SNV
Germline		 Chr3:50302170 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter
 rs_782240278

1 SubmittersRCV001385919
NM_033159.4(HYAL1):c.707G>A (p.Trp236Ter) SNV
Germline		 Chr3:50302250 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter
 rs_2109307152

1 SubmittersRCV001384674
NM_033159.4(HYAL1):c.445C>T (p.Gln149Ter) SNV
Germline		 Chr3:50302512 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter
 rs_1702209367

1 SubmittersRCV001950842
NM_033159.4(HYAL1):c.546G>A (p.Trp182Ter) SNV
Germline		 Chr3:50302411 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter
 rs_1553713200

1 SubmittersRCV001979958
NM_033159.4(HYAL1):c.937C>T (p.Gln313Ter) SNV
Germline		 Chr3:50301041 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter
 rs_2109304251

1 SubmittersRCV002000001
NM_033159.4(HYAL1):c.390G>A (p.Trp130Ter) SNV
Germline		 Chr3:50302567 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter

1 SubmittersRCV002634188
NM_033159.4(HYAL1):c.572G>A (p.Arg191Gln) SNV
Germline		 Chr3:50302385 Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002640704RCV004072019
NM_033159.4(HYAL1):c.410G>A (p.Trp137Ter) SNV
Germline		 Chr3:50302547 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter

1 SubmittersRCV002870778
NM_033159.4(HYAL1):c.900+1G>A SNV
Germline		 Chr3:50302056 Likely pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter

1 SubmittersRCV002862454
NM_033159.4(HYAL1):c.597G>A (p.Trp199Ter) SNV
Germline		 Chr3:50302360 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter

1 SubmittersRCV002858070
NM_033159.4(HYAL1):c.142G>A (p.Gly48Ser) SNV
Germline		 Chr3:50302815 Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002947689RCV004067223
NM_033159.4(HYAL1):c.658C>T (p.Gln220Ter) SNV
Germline		 Chr3:50302299 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter

1 SubmittersRCV003607644
NM_033159.4(HYAL1):c.545G>A (p.Trp182Ter) SNV
Germline		 Chr3:50302412 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter

1 SubmittersRCV003607925
NM_033159.4(HYAL1):c.190C>T (p.Gln64Ter) SNV
Germline		 Chr3:50302767 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter

1 SubmittersRCV003608264
NM_033159.4(HYAL1):c.775C>T (p.Gln259Ter) SNV
Germline		 Chr3:50302182 Pathogenic Deficiency of hyaluronoglucosaminidase Criteria Provided
Single Submitter

1 SubmittersRCV003608431