Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACVR2B gene ACVR2B Expert Review Red;Victorian Clinical Genetics Services Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy, visceral, 4, autosomal 613751 9916847;30622330;21864452 False 1 0;0;100 0.540 True ENSG00000114739 ENSG00000114739 HGNC:174 ASXL3 gene ASXL3 Expert Review Red;Literature Congenital Heart Defect Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Congenital heart disease, MONDO:0005453, ASXL3-related 32696347 False 1 0;0;100 0.540 True ENSG00000141431 ENSG00000141431 HGNC:29357 ATE1 gene ATE1 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000107669 ENSG00000107669 HGNC:782 BMPR2 gene BMPR2 Expert Review Red;Victorian Clinical Genetics Services Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600 Pulmonary venoocclusive disease 1 MIM#265450 False 1 0;0;100 0.540 True ENSG00000204217 ENSG00000204217 HGNC:1078 CHST14 gene CHST14 Expert list;Expert Review Red;Literature Congenital Heart Defect Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776 20503305 False 1 0;0;100 0.540 True ENSG00000169105 ENSG00000169105 HGNC:24464 COL1A2 gene COL1A2 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000164692 ENSG00000164692 HGNC:2198 CRELD1 gene CRELD1 Expert Review Red;Victorian Clinical Genetics Services Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrioventricular septal defect, susceptibility to, 2;Atrioventricular septal defect, partial, with heterotaxy syndrome MIM#606217 22740159;12632326;23040494;25328912;24697899;33773999 False 1 0;0;100 0.540 True ENSG00000163703 ENSG00000163703 HGNC:14630 CSRP1 gene CSRP1 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000159176 ENSG00000159176 HGNC:2469 CTNNA3 gene CTNNA3 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000183230 ENSG00000183230 HGNC:2511 DAND5 gene DAND5 ClinGen Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 False ENSG00000179284 ENSG00000179284 HGNC:26780 DAND5 gene DAND5 ClinGen Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 False ENSG00000179284 ENSG00000179284 HGNC:26780 DCHS1 gene DCHS1 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000166341 ENSG00000166341 HGNC:13681 DTNA gene DTNA ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000134769 ENSG00000134769 HGNC:3057 FMO5 gene FMO5 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000131781 ENSG00000131781 HGNC:3773 FOXL1 gene FOXL1 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000176678 ENSG00000176678 HGNC:3817 FOXP1 gene FOXP1 Expert list;Expert Review Red;Literature Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with language impairment with or without autistic features, MIM# 613670;Atrial septal defect;Atrioventricular septal defect;Patent ductus arteriosus;Pulmonic stenosis;Hypoplastic left heart syndrome 29090079;23766104 False 1 0;67;33 0.540 True ENSG00000114861 ENSG00000114861 HGNC:3823 GJA5 gene GJA5 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000143140 ENSG00000265107 HGNC:4279 HDAC1 gene HDAC1 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000116478 ENSG00000116478 HGNC:4852 HEY1 gene HEY1 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000164683 ENSG00000164683 HGNC:4880 ID2 gene ID2 ClinGen Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 False ENSG00000115738 ENSG00000115738 HGNC:5361 ID2 gene ID2 ClinGen Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 False ENSG00000115738 ENSG00000115738 HGNC:5361 IRX4 gene IRX4 Expert list;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular septal defect 21544582 False 1 0;0;100 0.540 True ENSG00000113430 ENSG00000113430 HGNC:6129 KMT2B gene KMT2B Expert Review Red;Victorian Clinical Genetics Services Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 28,Childhood-onset;DYT28(617284);Intellectual Developmental disorder, Autosomal dominant;MRD68(619934) 29276005;23426673;33150406;23665959;37504561;28902362;21646717 False 1 0;50;50 0.540 True ENSG00000272333 ENSG00000272333 HGNC:15840 LEFTY2 gene LEFTY2 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000143768 ENSG00000143768 HGNC:3122 LTBP2 gene LTBP2 Expert Review Red;Literature Congenital Heart Defect Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Atrioventricular septal defect (AVSD);Mitral valve prolapse;patent ductus arteriosus (PDA);secondary atrial septal defect;pulmonary hypertension;polydactyly 33098376;35245370;31512380;22539340;30565850 False 1 0;0;100 0.540 True Other ENSG00000119681 ENSG00000119681 HGNC:6715 MCF2L gene MCF2L Expert Review Red;Literature Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted vascular malformation MONDO:0024291, MCF2L-related 36760094 False 1 0;0;100 0.540 True ENSG00000126217 ENSG00000126217 HGNC:14576 MEF2C gene MEF2C Expert list;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease 29104469;22498567;26811383 False 1 0;0;100 0.540 True ENSG00000081189 ENSG00000081189 HGNC:6996 MIB1 gene MIB1 Expert Review;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease 33057194 False 1 0;50;50 0.540 True ENSG00000101752 ENSG00000101752 HGNC:21086 NFATC1 gene NFATC1 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000131196 ENSG00000131196 HGNC:7775 NFATC2 gene NFATC2 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000101096 ENSG00000101096 HGNC:7776 NTRK3 gene NTRK3 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000140538 ENSG00000140538 HGNC:8033 OSR1 gene OSR1 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000143867 ENSG00000143867 HGNC:8111 PAK2 gene PAK2 Literature Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Knobloch syndrome 2 MIM#618458 PMID: 38894571 False 1 100;0;0 0.540 False ENSG00000180370 ENSG00000180370 HGNC:8591 PCDHA13 gene PCDHA13 Expert Review Red;Literature Congenital Heart Defect Cardiovascular disorders Other Hypoplastic left heart syndrome, MONDO:0004933 40988636 False 1 0;0;100 0.540 True ENSG00000239389 ENSG00000239389 HGNC:8667 PCSK5 gene PCSK5 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic congenital heart disease, MONDO:0100614 False 1 0;0;100 0.540 True ENSG00000099139 ENSG00000099139 HGNC:8747 PROX1 gene PROX1 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000117707 ENSG00000117707 HGNC:9459 RAI2 gene RAI2 ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000131831 ENSG00000131831 HGNC:9835 SCN5A gene SCN5A ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000183873 ENSG00000183873 HGNC:10593 TMBIM4 gene TMBIM4 Expert Review Red;Literature Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Visceral heterotaxy MONDO:0018677, TMBIM4-related 40744297;21282601;28991257 False 1 0;0;100 0.540 True ENSG00000155957 ENSG00000155957 HGNC:24257 UGDH gene UGDH ClinGen;Expert Review Red Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453 False 1 0;0;100 0.540 True ENSG00000109814 ENSG00000109814 HGNC:12525 WDR47 gene WDR47 Expert Review Red;Literature Congenital Heart Defect Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease MONDO:0005453 35474353;39609633 False 1 0;0;100 0.540 True ENSG00000085433 ENSG00000085433 HGNC:29141 WNT11 gene WNT11 Expert Review Red;Literature Congenital Heart Defect Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Laterality defects;complex congenital heart defects;renal defects PMID: 40200693 False 1 0;0;100 0.540 True ENSG00000085741 ENSG00000085741 HGNC:12776