Total 39 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 Multiple Submitters No Conflicts	CA129918	rs_587776912	3 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.1293C>T (p.Asn431=)	SNV Germline	Chr17:68539893	Conflicting classifications of pathogenicity	Condition: not provided Amelogenesis imperfecta type 1G	Criteria Provided Conflicting Classifications	CA8729710	rs_377240666	2 SubmittersRCV001486641 RCV005023173
NM_017565.4(FAM20A):c.721C>T (p.Gln241Ter)	SNV Germline	Chr17:68543720	Pathogenic/Likely pathogenic	Condition: not provided Amelogenesis imperfecta type 1G	Criteria Provided Multiple Submitters No Conflicts	CA8729939	rs_746063338	2 SubmittersRCV001864435 RCV005014741
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp)	SNV Germline	Chr17:68539955	Likely pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter	CA400757202	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	CA400759444	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	CA400756617	rs_1156573190	1 SubmittersRCV003154872
NM_017565.4(FAM20A):c.928+2T>C	SNV Germline	Chr17:68542692	Likely pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter	CA400758651	rs_762905130	1 SubmittersRCV003155005
NM_017565.4(FAM20A):c.345G>T (p.Ser115=)	SNV Germline	Chr17:68600322	Conflicting classifications of pathogenicity	Condition: not provided Amelogenesis imperfecta type 1G	Criteria Provided Conflicting Classifications	CA8730119	rs_986099	2 SubmittersRCV003837438 RCV005030310
NM_017565.4(FAM20A):c.1207G>A (p.Asp403Asn)	SNV Germline	Chr17:68540861	Likely pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter			1 SubmittersRCV005022566
NM_017565.4(FAM20A):c.1112G>A (p.Trp371Ter)	SNV Germline	Chr17:68540956	Likely pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter			1 SubmittersRCV005026006
NM_017565.4(FAM20A):c.813-1G>C	SNV Germline	Chr17:68542810	Likely pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter			1 SubmittersRCV005022577
NM_017565.4(FAM20A):c.727C>T (p.Arg243Ter)	SNV Germline	Chr17:68543714	Pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter			1 SubmittersRCV005022580
NM_017565.4(FAM20A):c.590-5T>A	SNV Germline	Chr17:68554832	Pathogenic/Likely pathogenic	Amelogenesis imperfecta type 1G Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005022584 RCV005112690
NM_017565.4(FAM20A):c.466C>T (p.Arg156Ter)	SNV Germline	Chr17:68555682	Pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter			1 SubmittersRCV005022586
NM_017565.4(FAM20A):c.720-1G>C	SNV Germline	Chr17:68543722	Likely pathogenic	Amelogenesis imperfecta type 1G	Criteria Provided Single Submitter			1 SubmittersRCV005620892