Total 7 pathogenic variants reported for GAPO syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter) SNV
Germline		 Chr2:69075602 Likely pathogenic GAPO syndrome Criteria Provided
Single Submitter
 CA143841 rs_397514700

2 SubmittersRCV000043621
NM_032208.3(ANTXR1):c.262C>T (p.Arg88Ter) SNV
Germline		 Chr2:69044779 Pathogenic GAPO syndrome No Assertion Criteria Provided
 CA143844 rs_397514701

1 SubmittersRCV000043622
NM_032208.3(ANTXR1):c.411A>G (p.Gln137=) SNV
Germline		 Chr2:69071786 Likely pathogenic GAPO syndrome Criteria Provided
Single Submitter
 CA357954 rs_869312896

2 SubmittersRCV000210423
NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser) SNV
Germline		 Chr2:69181846 Likely pathogenic GAPO syndrome Criteria Provided
Single Submitter
 CA357965 rs_869312897

2 SubmittersRCV000210434
NM_032208.3(ANTXR1):c.1434+1G>A SNV
Germline		 Chr2:69193416 Likely pathogenic GAPO syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003447824