Total 9 pathogenic variants reported for Adams-Oliver syndrome 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter) SNV
Germline		 Chr3:119413976 Pathogenic Adams-Oliver syndrome 1 No Assertion Criteria Provided
 CA129505 rs_387907031

1 SubmittersRCV000023842
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser) SNV
Germline		 Chr3:119414252 Conflicting classifications of pathogenicity Condition: not provided
ARHGAP31-related disorder
Adams-Oliver syndrome 1		 Criteria Provided
Conflicting Classifications
 CA2554008 rs_147415811

5 SubmittersRCV000313938RCV003930148RCV003137897
NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter) SNV
Germline		 Chr3:119414111 Pathogenic Adams-Oliver syndrome 1 Criteria Provided
Single Submitter
 CA354049648 rs_1553768038

1 SubmittersRCV000662241
NM_020754.4(ARHGAP31):c.4139C>T (p.Thr1380Ile) SNV
Germline		 Chr3:119416068 Conflicting classifications of pathogenicity Adams-Oliver syndrome 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA81698771 rs_9852894

2 SubmittersRCV000791018RCV005463131
NM_020754.4(ARHGAP31):c.688C>T (p.Arg230Trp) SNV
Germline		 Chr3:119390790 Conflicting classifications of pathogenicity Condition: not provided
Adams-Oliver syndrome 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2553686 rs_200204811

3 SubmittersRCV001913332RCV003136285RCV005704732
NM_020754.4(ARHGAP31):c.3596C>T (p.Ala1199Val) SNV
Germline		 Chr3:119415525 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Adams-Oliver syndrome 1		 Criteria Provided
Conflicting Classifications
 CA2554222 rs_534166705

3 SubmittersRCV001910091RCV002555731RCV003136294
NM_020754.4(ARHGAP31):c.482G>C (p.Ser161Thr) SNV
Germline		 Chr3:119382342 Conflicting classifications of pathogenicity Adams-Oliver syndrome 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2553597 rs_774009946

3 SubmittersRCV003141486RCV003274345RCV006473691
NM_020754.4(ARHGAP31):c.1150G>A (p.Gly384Ser) SNV
Germline		 Chr3:119401902 Conflicting classifications of pathogenicity Adams-Oliver syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2553770 rs_747126561

2 SubmittersRCV003320429RCV003777318