Total 41 pathogenic variants reported for Amelogenesis imperfecta hypomaturation type 2A3 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_182758.4(WDR72):c.2348C>G (p.Ser783Ter) SNV
Germline		 Chr15:53615858 Pathogenic Amelogenesis imperfecta hypomaturation type 2A3 No Assertion Criteria Provided
 CA114063 rs_267607178

1 SubmittersRCV000000255
NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter) SNV
Germline		 Chr15:53609531 Pathogenic Amelogenesis imperfecta hypomaturation type 2A3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114065 rs_143816093

4 SubmittersRCV000000256RCV000421226
NM_182758.4(WDR72):c.99G>T (p.Val33=) SNV
Germline		 Chr15:53733051 Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A3
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA7571542 rs_144767107

3 SubmittersRCV000316566RCV004693235RCV006445725
NM_182758.4(WDR72):c.93G>C (p.Thr31=) SNV
Germline		 Chr15:53733057 Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7571545 rs_148643501

2 SubmittersRCV000357408RCV003389798
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) SNV
Germline		 Chr15:53733062 Pathogenic/Likely pathogenic Amelogenesis imperfecta
Amelogenesis imperfecta hypomaturation type 2A3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7571550 rs_770804941

4 SubmittersRCV000604368RCV002272302RCV005250083
NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter) SNV
Germline/somatic		 Chr15:53615520 Pathogenic Amelogenesis imperfecta hypomaturation type 2A3
Renal tubular acidosis, distal, 4, with hemolytic anemia
Amelogenesis imperfecta hypomaturation type 2A3
Renal tubulopathies		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7570824 rs_557128345

4 SubmittersRCV000677370RCV002491342RCV006459688
NM_182758.4(WDR72):c.2357T>G (p.Val786Gly) SNV
Germline		 Chr15:53615849 Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A3
WDR72-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7570885 rs_150548151

3 SubmittersRCV001120894RCV003938470RCV006387158
NM_182758.4(WDR72):c.118C>T (p.Gln40Ter) SNV
Unknown		 Chr15:53733032 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter
 CA7571540 rs_142154661

1 SubmittersRCV003154853
NM_182758.4(WDR72):c.2864T>G (p.Leu955Ter) SNV
Germline		 Chr15:53613674 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter
 CA392527202 rs_2543065306

1 SubmittersRCV003232053
NM_182758.4(WDR72):c.858-1G>C SNV
Germline		 Chr15:53710954 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter
 CA392539711 rs_2017517553

1 SubmittersRCV003989994
NM_182758.4(WDR72):c.1348+1G>T SNV
Germline		 Chr15:53704987 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter
 CA392537839 rs_1431736022

1 SubmittersRCV003990417
NM_182758.4(WDR72):c.3161C>T (p.Pro1054Leu) SNV
Germline		 Chr15:53523310 Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A3
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005009731RCV005291129
NM_182758.4(WDR72):c.2473C>T (p.Gln825Ter) SNV
Germline		 Chr15:53615733 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter

1 SubmittersRCV005009760
NM_182758.4(WDR72):c.2078T>A (p.Leu693Ter) SNV
Germline		 Chr15:53616128 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter

1 SubmittersRCV005011745
NM_182758.4(WDR72):c.1862C>G (p.Ser621Ter) SNV
Germline		 Chr15:53665672 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter

1 SubmittersRCV005011752
NM_182758.4(WDR72):c.997A>T (p.Lys333Ter) SNV
Germline		 Chr15:53706032 Pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter

1 SubmittersRCV005003086
NM_182758.4(WDR72):c.965G>A (p.Arg322His) SNV
Germline		 Chr15:53706064 Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A3
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005003087RCV005522975
NM_182758.4(WDR72):c.858-2A>G SNV
Germline		 Chr15:53710955 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter

1 SubmittersRCV005003094
NM_182758.4(WDR72):c.655C>T (p.Arg219Ter) SNV
Germline		 Chr15:53712828 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter

1 SubmittersRCV005003098
NM_182758.4(WDR72):c.591+1G>C SNV
Germline		 Chr15:53714433 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter

1 SubmittersRCV005003100
NM_182758.4(WDR72):c.474G>A (p.Trp158Ter) SNV
Germline		 Chr15:53715233 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter

1 SubmittersRCV005011786
NM_182758.4(WDR72):c.297C>A (p.Cys99Ter) SNV
Germline		 Chr15:53716649 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter

1 SubmittersRCV005003107
NM_182758.4(WDR72):c.166G>T (p.Glu56Ter) SNV
Germline		 Chr15:53722896 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter

1 SubmittersRCV005003109
NM_182758.4(WDR72):c.37C>T (p.Gln13Ter) SNV
Germline		 Chr15:53733113 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter

1 SubmittersRCV005011797
NM_182758.4(WDR72):c.561G>A (p.Trp187Ter) SNV
Germline		 Chr15:53714464 Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 Criteria Provided
Single Submitter

1 SubmittersRCV005065349