Total 7 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 Adams-Oliver syndrome 1 ARHGAP31-related disorder	Criteria Provided Conflicting Classifications	CA2554008	rs_147415811	4 SubmittersRCV000313938 RCV003137897 RCV003930148
NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter)	SNV Germline	Chr3:119414111	Pathogenic	Adams-Oliver syndrome 1	Criteria Provided Single Submitter		rs_1553768038	1 SubmittersRCV000662241
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		rs_534166705	3 SubmittersRCV001910091 RCV002555731 RCV003136294
NM_020754.4(ARHGAP31):c.482G>C (p.Ser161Thr)	SNV Germline	Chr3:119382342	Conflicting classifications of pathogenicity	Adams-Oliver syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003141486 RCV003274345
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			2 SubmittersRCV003320429 RCV003777318