Total 9 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	Pathogenic/Likely pathogenic	GAPO syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA143841	rs_397514700	3 SubmittersRCV000043621 RCV005089405
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.561+6G>A	SNV Germline	Chr2:69075664	Conflicting classifications of pathogenicity	Inborn genetic diseases GAPO syndrome	Criteria Provided Conflicting Classifications	CA1692921	rs_776436815	2 SubmittersRCV002747450 RCV004725587
NM_032208.3(ANTXR1):c.1434+1G>A	SNV Germline	Chr2:69193416	Likely pathogenic	GAPO syndrome	Criteria Provided Single Submitter	CA347134258	rs_2467491761	1 SubmittersRCV003447824