Total 30 pathogenic variants reported for Macular corneal dystrophy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_021615.5(CHST6):c.521A>G (p.Lys174Arg) SNV
Germline		 Chr16:75479308 Pathogenic Macular corneal dystrophy Criteria Provided
Single Submitter
 CA250518 rs_28937877

2 SubmittersRCV000005375
NM_021615.5(CHST6):c.609C>A (p.Asp203Glu) SNV
Germline		 Chr16:75479220 Pathogenic Macular corneal dystrophy No Assertion Criteria Provided
 CA250519 rs_28937878

1 SubmittersRCV000005376
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) SNV
Germline		 Chr16:75479230 Pathogenic Macular corneal dystrophy
Macular corneal dystrophy, type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117249 rs_28937879

8 SubmittersRCV000005379RCV000005380RCV001091757
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly) SNV
Germline		 Chr16:75479525 Pathogenic Macular corneal dystrophy Criteria Provided
Multiple Submitters
No Conflicts
 CA250520 rs_121917822

3 SubmittersRCV000005381
NM_021615.5(CHST6):c.329A>G (p.Tyr110Cys) SNV
Germline		 Chr16:75479500 Pathogenic Macular corneal dystrophy No Assertion Criteria Provided
 CA250521 rs_72547544

1 SubmittersRCV000005382
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro) SNV
Germline		 Chr16:75479002 Pathogenic Macular corneal dystrophy No Assertion Criteria Provided
 CA250522 rs_121917824

1 SubmittersRCV000005383
NM_021615.5(CHST6):c.277C>A (p.Arg93Ser) SNV
Germline		 Chr16:75479552 Pathogenic Macular corneal dystrophy, type II No Assertion Criteria Provided
 CA117250 rs_121917826

1 SubmittersRCV000005384
NM_021615.5(CHST6):c.993G>T (p.Gln331His) SNV
Germline		 Chr16:75478836 Conflicting classifications of pathogenicity not specified
Macular corneal dystrophy		 Criteria Provided
Conflicting Classifications
 CA243479 rs_140699573

3 SubmittersRCV000177326RCV000885002
NM_021615.5(CHST6):c.918C>T (p.Ile306=) SNV
Germline		 Chr16:75478911 Conflicting classifications of pathogenicity Macular corneal dystrophy Criteria Provided
Conflicting Classifications
 CA8175352 rs_576445739

2 SubmittersRCV000397048
NM_021615.5(CHST6):c.892C>T (p.Gln298Ter) SNV
Germline		 Chr16:75478937 Pathogenic Macular corneal dystrophy Criteria Provided
Single Submitter
 CA10648995 rs_886052321

1 SubmittersRCV000303034
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter) SNV
Germline		 Chr16:75479657 Pathogenic/Likely pathogenic Condition: not provided
Macular corneal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8175566 rs_756036451

2 SubmittersRCV000598391RCV002506409
NM_021615.5(CHST6):c.6G>A (p.Trp2Ter) SNV
Germline		 Chr16:75479823 Conflicting classifications of pathogenicity Macular corneal dystrophy Criteria Provided
Conflicting Classifications
 rs_753928736

2 SubmittersRCV000778479
NM_021615.5(CHST6):c.1A>T (p.Met1Leu) SNV
Germline		 Chr16:75479828 Pathogenic Condition: not provided
Macular corneal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_755563003

2 SubmittersRCV001091758RCV003505163
NM_021615.5(CHST6):c.656C>T (p.Ala219Val) SNV
Germline		 Chr16:75479173 Conflicting classifications of pathogenicity Macular corneal dystrophy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_201743866

3 SubmittersRCV001117910RCV002558162
NM_021615.5(CHST6):c.573C>G (p.Pro191=) SNV
Germline		 Chr16:75479256 Conflicting classifications of pathogenicity Macular corneal dystrophy Criteria Provided
Conflicting Classifications
 rs_1044185449

2 SubmittersRCV001119457
NM_021615.5(CHST6):c.301C>T (p.Leu101=) SNV
Germline		 Chr16:75479528 Conflicting classifications of pathogenicity Macular corneal dystrophy
CHST6-related disorder		 Criteria Provided
Conflicting Classifications
 rs_373160858

3 SubmittersRCV001119461RCV003963063
NM_021615.5(CHST6):c.15C>T (p.Arg5=) SNV
Germline		 Chr16:75479814 Conflicting classifications of pathogenicity Macular corneal dystrophy Criteria Provided
Conflicting Classifications
 rs_762744897

2 SubmittersRCV001121456
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) SNV
Germline		 Chr16:75478832 Conflicting classifications of pathogenicity Macular corneal dystrophy Criteria Provided
Conflicting Classifications
 rs_758657734

3 SubmittersRCV001731225
NM_021615.5(CHST6):c.211G>C (p.Glu71Gln) SNV
Unknown		 Chr16:75479618 Likely pathogenic Macular corneal dystrophy No Assertion Criteria Provided
 rs_999246452

1 SubmittersRCV001785426
NM_021615.5(CHST6):c.379C>T (p.Arg127Cys) SNV
Germline		 Chr16:75479450 Pathogenic Macular corneal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV003324218
NM_021615.5(CHST6):c.481G>C (p.Ala161Pro) SNV
Germline		 Chr16:75479348 Likely pathogenic Macular corneal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV003330350
NM_021615.5(CHST6):c.418C>T (p.Arg140Ter) SNV
Germline		 Chr16:75479411 Pathogenic Macular corneal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV003331592
NM_021615.5(CHST6):c.631C>T (p.Arg211Trp) SNV
Germline		 Chr16:75479198 Pathogenic Macular corneal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV003404770
NM_021615.5(CHST6):c.632G>A (p.Arg211Gln) SNV
Germline		 Chr16:75479197 Pathogenic Macular corneal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV003506579