Total 23 pathogenic variants reported for Amelogenesis imperfecta type 1G

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter)	SNV Germline	Chr17:68555742	Pathogenic	Amelogenesis imperfecta type 1G Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129514	rs_144411158	4 SubmittersRCV000023864 RCV002513210
NM_017565.4(FAM20A):c.813-2A>G	SNV Germline	Chr17:68542811	Pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter	CA129918	rs_587776912	2 SubmittersRCV000029151
NM_017565.4(FAM20A):c.590-2A>G	SNV Germline	Chr17:68554829	Pathogenic	Amelogenesis imperfecta type 1G	No Assertion Criteria Provided	CA129920	rs_587776914	1 SubmittersRCV000029153
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter)	SNV Germline	Chr17:68542796	Pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter	CA129921	rs_387907215	2 SubmittersRCV000029154
NM_017565.4(FAM20A):c.720-2A>G	SNV Germline	Chr17:68543723	Pathogenic	Amelogenesis imperfecta type 1G	No Assertion Criteria Provided	CA163384	rs_587777530	1 SubmittersRCV000128612
NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter)	SNV Germline	Chr17:68537671	Pathogenic	Amelogenesis imperfecta type 1G	No Assertion Criteria Provided	CA163385	rs_139620139	1 SubmittersRCV000128613
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp)	SNV Germline	Chr17:68539955	Likely pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter		rs_149970399	1 SubmittersRCV002254496
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys)	SNV Germline	Chr17:68543683	Likely pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter		rs_2143526006	1 SubmittersRCV002255775
NM_017565.4(FAM20A):c.1361+1G>A	SNV Unknown	Chr17:68539336	Likely pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter			1 SubmittersRCV003154872
NM_017565.4(FAM20A):c.928+2T>C	SNV Germline	Chr17:68542692	Likely pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter			1 SubmittersRCV003155005