| Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_000414.3(HSD17B4):c.46G>A (p.Gly16Ser) | 3295 | HSD17B4 | Pathogenic | 137853096 | RCV000008094; | N | MedGen:C0342870,OMIM:261515,ORPHA:300,SNOMED CT:238068007 | 5 | 118788316 | 118788316 | NM_000414.3:c.46G>A | NP_000405.1:p.Gly16Ser | NC_000005.9:g.118788316G>A | OMIM Allelic Variant:601860.0003 | C0342870 261515 Bifunctional peroxisomal enzyme deficiency | | |
| NM_000414.3(HSD17B4):c.64G>T (p.Gly22Cys) | 3295 | HSD17B4 | Likely pathogenic | 794729224 | RCV000184045; | N | MedGen:C0342870,OMIM:261515,ORPHA:300,SNOMED CT:238068007 | 5 | 118792015 | 118792015 | NM_000414.3:c.64G>T | NP_000405.1:p.Gly22Cys | NC_000005.9:g.118792015G>T | - | C0342870 261515 Bifunctional peroxisomal enzyme deficiency | | |
| NM_000414.3(HSD17B4):c.302+1_302+4delGTGA | 3295 | HSD17B4 | Pathogenic | 863225438 | RCV000202368; | N | MedGen:C0342870,OMIM:261515,ORPHA:300,SNOMED CT:238068007 | 5 | 118811422 | 118811426 | NM_000414.3:c.302+1_302+4delGTGA | | NC_000005.9:g.118811423_118811426delGTGA | - | C0342870 261515 Bifunctional peroxisomal enzyme deficiency | | |
| NM_000414.3(HSD17B4):c.317G>C (p.Arg106Pro) | 3295 | HSD17B4 | Pathogenic | 25640 | RCV000008096; | N | MedGen:C0342870,OMIM:261515,ORPHA:300,SNOMED CT:238068007 | 5 | 118811533 | 118811533 | NM_000414.3:c.317G>C | NP_000405.1:p.Arg106Pro | NC_000005.9:g.118811533G>A,NC_000005.9:g.118811533G>C | OMIM Allelic Variant:601860.0005 | C0342870 261515 Bifunctional peroxisomal enzyme deficiency | | |
| NM_000414.3(HSD17B4):c.819G>T (p.Trp273Cys) | 3295 | HSD17B4 | Likely pathogenic | 368744809 | RCV000184045; | N | MedGen:C0342870,OMIM:261515,ORPHA:300,SNOMED CT:238068007 | 5 | 118829592 | 118829592 | NM_000414.3:c.819G>T | NP_000405.1:p.Trp273Cys | NC_000005.9:g.118792015G>T | - | C0342870 261515 Bifunctional peroxisomal enzyme deficiency | | |
| NM_000414.3(HSD17B4):c.973_1209del237 (p.Ala325_Lys403del) | 3295 | HSD17B4 | Pathogenic | -1 | RCV000008093; | N | MedGen:C0342870,OMIM:261515,ORPHA:300,SNOMED CT:238068007 | 5 | 118835012 | 118835248 | NM_000414.3:c.973_1209del237 | NP_000405.1:p.Ala325_Lys403del | | OMIM Allelic Variant:601860.0002,dbVar:nssv3761541,dbVar:nsv1067921 | C0342870 261515 Bifunctional peroxisomal enzyme deficiency | | |
| NM_000414.3(HSD17B4):c.1210_1261del52 (p.Val404Glufs) | 3295 | HSD17B4 | Pathogenic | -1 | RCV000008092; | N | MedGen:C0342870,OMIM:261515,ORPHA:300,SNOMED CT:238068007 | 5 | 118837736 | 118837787 | NM_000414.3:c.1210_1261del52 | NP_000405.1:p.Val404Glufs | | OMIM Allelic Variant:601860.0001,dbVar:nssv3761557,dbVar:nsv1067920 | C0342870 261515 Bifunctional peroxisomal enzyme deficiency | | |
| NM_000414.3(HSD17B4):c.1369A>T (p.Asn457Tyr) | 3295 | HSD17B4 | Pathogenic | 137853097 | RCV000008095; | N | MedGen:C0342870,OMIM:261515,ORPHA:300,SNOMED CT:238068007 | 5 | 118844871 | 118844871 | NM_000414.3:c.1369A>T | NP_000405.1:p.Asn457Tyr | NC_000005.9:g.118844871A>T | OMIM Allelic Variant:601860.0004 | C0342870 261515 Bifunctional peroxisomal enzyme deficiency | | |
D-BIFUNCTIONAL PROTEIN DEFICIENCY 
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