Total 10 pathogenic variants reported for Heterotaxy, visceral, 6, autosomal

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_145020.5(CFAP53):c.1213+1G>A	SNV Germline	Chr18:50242899	Likely pathogenic	Heterotaxy, visceral, 6, autosomal	Criteria Provided Single Submitter	CA402437224	rs_2144412496	2 SubmittersRCV000030691
NM_145020.5(CFAP53):c.121C>T (p.Arg41Ter)	SNV Germline	Chr18:50262168	Pathogenic	Heterotaxy, visceral, 6, autosomal	No Assertion Criteria Provided	CA319679	rs_375801610	1 SubmittersRCV000190555
NM_145020.5(CFAP53):c.1513C>T (p.Arg505Cys)	SNV Germline	Chr18:50227413	Conflicting classifications of pathogenicity	Heterotaxy, visceral, 6, autosomal Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8962082	rs_192619553	3 SubmittersRCV000945693 RCV003413747 RCV005801946
NM_145020.5(CFAP53):c.1101C>A (p.Asp367Glu)	SNV Germline	Chr18:50243012	Conflicting classifications of pathogenicity	Heterotaxy, visceral, 6, autosomal Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8962203	rs_369539291	3 SubmittersRCV001244617 RCV001812260 RCV003294141
NM_145020.5(CFAP53):c.877C>T (p.Gln293Ter)	SNV Unknown	Chr18:50250877	Likely pathogenic	Heterotaxy, visceral, 6, autosomal	Criteria Provided Single Submitter	CA300033885	rs_897584290	1 SubmittersRCV003147972
NM_145020.5(CFAP53):c.474-2A>G	SNV Germline	Chr18:50251786	Likely pathogenic	Heterotaxy, visceral, 6, autosomal	Criteria Provided Single Submitter			1 SubmittersRCV005189334
NM_145020.5(CFAP53):c.1214-1G>A	SNV Germline	Chr18:50238706	Likely pathogenic	Heterotaxy, visceral, 6, autosomal	Criteria Provided Single Submitter			1 SubmittersRCV005233303
NM_145020.5(CFAP53):c.1144G>T (p.Glu382Ter)	SNV Germline	Chr18:50242969	Likely pathogenic	Heterotaxy, visceral, 6, autosomal	Criteria Provided Single Submitter			1 SubmittersRCV005360352
NM_145020.5(CFAP53):c.996+1G>C	SNV Germline	Chr18:50250757	Likely pathogenic	Heterotaxy, visceral, 6, autosomal	Criteria Provided Single Submitter			1 SubmittersRCV006534534