Total 33 pathogenic variants reported for Canavan disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) SNV
Germline		 Chr17:3499000 Pathogenic Spongy degeneration of central nervous system
Condition: not provided
Canavan Disease, Familial Form
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA325511 rs_28940279

19 SubmittersRCV000002723RCV000420704RCV000590467RCV002444416
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg) SNV
Germline		 Chr17:3483520 Pathogenic/Likely pathogenic Spongy degeneration of central nervous system
Canavan Disease, Familial Form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252354 rs_104894548

6 SubmittersRCV000002724RCV003387712
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) SNV
Germline		 Chr17:3499060 Pathogenic Spongy degeneration of central nervous system
Condition: not provided
Canavan Disease, Familial Form
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252356 rs_28940574

17 SubmittersRCV000002725RCV000489986RCV000588914RCV002371754
NM_000049.4(ASPA):c.654C>A (p.Cys218Ter) SNV
Germline		 Chr17:3494369 Pathogenic Spongy degeneration of central nervous system
Canavan Disease, Familial Form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252358 rs_104894549

8 SubmittersRCV000002726RCV001174807
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) SNV
Germline		 Chr17:3494408 Pathogenic Spongy degeneration of central nervous system
Canavan Disease, Familial Form
Condition: not provided
Inborn genetic diseases
ASPA-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340003 rs_12948217

14 SubmittersRCV000002727RCV000588866RCV000627216RCV002362553RCV004757094
NM_000049.4(ASPA):c.212G>A (p.Arg71His) SNV
Germline		 Chr17:3476371 Pathogenic/Likely pathogenic Mild Canavan disease
Spongy degeneration of central nervous system
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115640 rs_104894553

11 SubmittersRCV000002734RCV000363108RCV001093136RCV002415389
NM_000049.4(ASPA):c.433-2A>G SNV
Germline		 Chr17:3483497 Pathogenic/Likely pathogenic Condition: not provided
Canavan Disease, Familial Form
Spongy degeneration of central nervous system
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275159 rs_63751297

5 SubmittersRCV000176967RCV002222362RCV002513318RCV004018705
NM_000049.4(ASPA):c.237-2A>T SNV
Germline		 Chr17:3481601 Pathogenic/Likely pathogenic Canavan Disease, Familial Form
Spongy degeneration of central nervous system		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274394 rs_780936696

7 SubmittersRCV000780870RCV000169526
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr) SNV
Germline		 Chr17:3489249 Pathogenic/Likely pathogenic Spongy degeneration of central nervous system
Condition: not provided
Canavan Disease, Familial Form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274160 rs_786204572

7 SubmittersRCV000169314RCV001093138RCV002265654
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg) SNV
Germline		 Chr17:3498966 Pathogenic/Likely pathogenic Condition: not provided
Canavan Disease, Familial Form
Spongy degeneration of central nervous system		 Criteria Provided
Multiple Submitters
No Conflicts
 CA273959 rs_761064915

8 SubmittersRCV002222420RCV001293576RCV000169117
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr) SNV
Germline		 Chr17:3499005 Pathogenic/Likely pathogenic Spongy degeneration of central nervous system
Canavan Disease, Familial Form
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA273981 rs_774323189

7 SubmittersRCV000169134RCV000587229RCV002262764
NM_000049.4(ASPA):c.731A>G (p.His244Arg) SNV
Germline		 Chr17:3494446 Likely pathogenic Spongy degeneration of central nervous system
Canavan Disease, Familial Form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041827 rs_1057516995

3 SubmittersRCV000411129RCV003330657
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu) SNV
Germline		 Chr17:3481734 Pathogenic/Likely pathogenic Condition: not provided
Spongy degeneration of central nervous system
Canavan Disease, Familial Form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16608396 rs_1057521115

7 SubmittersRCV000432912RCV001276652RCV004689735
NM_000049.4(ASPA):c.631G>T (p.Glu211Ter) SNV
Germline		 Chr17:3489339 Likely pathogenic Canavan Disease, Familial Form Criteria Provided
Single Submitter
 CA397684673 rs_1555539903

1 SubmittersRCV000589812
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr) SNV
Germline		 Chr17:3481706 Pathogenic/Likely pathogenic Spongy degeneration of central nervous system
Canavan Disease, Familial Form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1446467099

5 SubmittersRCV000671501RCV001194237
NM_000049.4(ASPA):c.428T>C (p.Ile143Thr) SNV
Germline		 Chr17:3481794 Conflicting classifications of pathogenicity Spongy degeneration of central nervous system
Canavan Disease, Familial Form		 Criteria Provided
Conflicting Classifications
 rs_777936704

3 SubmittersRCV000673780RCV004768544
NM_000049.4(ASPA):c.634+1G>T SNV
Germline		 Chr17:3489343 Pathogenic/Likely pathogenic Spongy degeneration of central nervous system
Canavan Disease, Familial Form
Condition: not provided
Autism		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_753871454

12 SubmittersRCV000666161RCV000780869RCV001093139RCV004698509
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) SNV
Germline		 Chr17:3476248 Likely pathogenic Spongy degeneration of central nervous system
Canavan Disease, Familial Form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555538144

4 SubmittersRCV000672147RCV003117477
NM_000049.4(ASPA):c.539G>T (p.Gly180Val) SNV
Germline		 Chr17:3489247 Likely pathogenic Spongy degeneration of central nervous system
Canavan Disease, Familial Form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1014551540

4 SubmittersRCV000670116RCV003323670
NM_000049.4(ASPA):c.385G>A (p.Glu129Lys) SNV
Germline		 Chr17:3481751 Likely pathogenic Canavan Disease, Familial Form
Spongy degeneration of central nervous system		 Criteria Provided
Single Submitter
 rs_773049803

2 SubmittersRCV001194236RCV001828602
NM_000049.4(ASPA):c.941A>G (p.Ter314Trp) SNV
Germline		 Chr17:3499087 Likely pathogenic Spongy degeneration of central nervous system
Canavan Disease, Familial Form		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_745832703

4 SubmittersRCV001222487RCV003230648
NM_000049.4(ASPA):c.526G>A (p.Gly176Ser) SNV
Germline		 Chr17:3483592 Pathogenic Mild Canavan disease Criteria Provided
Single Submitter
 rs_2150748728

1 SubmittersRCV002274814
NM_000049.4(ASPA):c.677T>C (p.Ile226Thr) SNV
Germline		 Chr17:3494392 Likely pathogenic Canavan Disease, Familial Form
Spongy degeneration of central nervous system		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003230909RCV003475549
NM_000049.4(ASPA):c.868G>T (p.Glu290Ter) SNV
Germline		 Chr17:3499014 Pathogenic/Likely pathogenic Spongy degeneration of central nervous system
Canavan Disease, Familial Form		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472825RCV004587498
NM_000049.4(ASPA):c.432+1G>A SNV
Germline		 Chr17:3481799 Likely pathogenic Spongy degeneration of central nervous system
Canavan Disease, Familial Form		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003499997RCV004701737
NM_000049.4(ASPA):c.340G>A (p.Asp114Asn) SNV
Germline		 Chr17:3481706 Likely pathogenic Canavan Disease, Familial Form Criteria Provided
Single Submitter

1 SubmittersRCV004689495
NM_000049.4(ASPA):c.203A>C (p.Asp68Ala) SNV
Germline		 Chr17:3476362 Likely pathogenic Canavan Disease, Familial Form Criteria Provided
Single Submitter

1 SubmittersRCV004783541