Total 20 pathogenic variants reported for Congenital defect of folate absorption

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_080669.6(SLC46A1):c.1082-1G>A	SNV Germline	Chr17:28402322	Pathogenic	Congenital defect of folate absorption Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA026495	rs_80338775	7 SubmittersRCV000000898 RCV001851519 RCV002512627
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser)	SNV Germline	Chr17:28405360	Pathogenic	Congenital defect of folate absorption Condition: not provided	No Assertion Criteria Provided	CA026505	rs_80338770	3 SubmittersRCV000000900 RCV000059713
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg)	SNV Germline	Chr17:28404743	Pathogenic	Congenital defect of folate absorption Condition: not provided	No Assertion Criteria Provided	CA026509	rs_80338772	3 SubmittersRCV000000901 RCV000059717
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp)	SNV Germline	Chr17:28402277	Pathogenic	Congenital defect of folate absorption Condition: not provided	No Assertion Criteria Provided	CA026496	rs_80338773	3 SubmittersRCV000000902 RCV000059710
NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys)	SNV Germline	Chr17:28405360	Pathogenic	Congenital defect of folate absorption Condition: not provided	No Assertion Criteria Provided	CA026506	rs_80338770	2 SubmittersRCV000000903 RCV000059714
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg)	SNV Germline	Chr17:28400658	Likely pathogenic	Congenital defect of folate absorption Condition: not provided	Criteria Provided Single Submitter	CA026498	rs_80338774	3 SubmittersRCV000020948 RCV000059712
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp)	SNV Germline	Chr17:28404693	Conflicting classifications of pathogenicity	Congenital defect of folate absorption Condition: not provided	Criteria Provided Conflicting Classifications	CA026493	rs_281875208	4 SubmittersRCV000023911 RCV000059708
NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg)	SNV Germline	Chr17:28404685	Pathogenic	Congenital defect of folate absorption Condition: not provided	No Assertion Criteria Provided	CA026494	rs_281875209	2 SubmittersRCV000023913 RCV000059709
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln)	SNV Germline	Chr17:28402276	Conflicting classifications of pathogenicity	Congenital defect of folate absorption Condition: not provided	Criteria Provided Conflicting Classifications	CA026497	rs_281875211	4 SubmittersRCV000055980 RCV000059711
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser)	SNV Germline	Chr17:28406093	Conflicting classifications of pathogenicity	Condition: not provided Congenital defect of folate absorption SLC46A1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA026503	rs_41297065	5 SubmittersRCV000173552 RCV000278067 RCV003947462 RCV004020059
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val)	SNV Germline	Chr17:28405957	Conflicting classifications of pathogenicity	Condition: not provided Congenital defect of folate absorption SLC46A1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA026499	rs_41297069	5 SubmittersRCV000173553 RCV000374961 RCV003947463 RCV004020060
NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp)	SNV Germline	Chr17:28405185	Conflicting classifications of pathogenicity	Congenital defect of folate absorption Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8458319	rs_189103810	4 SubmittersRCV000385629 RCV001317868 RCV003993930
NM_080669.6(SLC46A1):c.972C>T (p.Leu324=)	SNV Germline	Chr17:28404725	Conflicting classifications of pathogenicity	Condition: not provided Congenital defect of folate absorption SLC46A1-related disorder	Criteria Provided Conflicting Classifications		rs_188529539	4 SubmittersRCV000885779 RCV001122258 RCV003930657
NM_080669.6(SLC46A1):c.189G>T (p.Arg63Ser)	SNV Germline	Chr17:28405926	Conflicting classifications of pathogenicity	Congenital defect of folate absorption Condition: not provided	Criteria Provided Conflicting Classifications		rs_41297071	2 SubmittersRCV001128116 RCV002070492
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile)	SNV Germline	Chr17:28406030	Conflicting classifications of pathogenicity	Congenital defect of folate absorption Condition: not provided	Criteria Provided Conflicting Classifications		rs_41297067	3 SubmittersRCV001128118 RCV001503711
NM_080669.6(SLC46A1):c.3G>A (p.Met1Ile)	SNV Germline	Chr17:28406112	Likely pathogenic	Cobalamin C disease Aspartylglucosaminuria Congenital defect of folate absorption	Criteria Provided Single Submitter			1 SubmittersRCV004544220 RCV004527245 RCV004579636