NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)Pathogenic
Perrault syndrome 1|Bifunctional peroxisomal enzyme deficiency|Rare genetic deafness|Perrault syndrome;Bifunctional peroxisomal enzyme deficiency|not provided|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome 1
★★☆☆2026→ Residue 516
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)Pathogenic
not provided|Bifunctional peroxisomal enzyme deficiency|Perrault syndrome 1;Bifunctional peroxisomal enzyme deficiency|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|HSD17B4-related disorder
★★☆☆2026→ Residue 312
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs)Pathogenic
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency
★★☆☆2026→ Residue 412
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)Pathogenic
Bifunctional peroxisomal enzyme deficiency|not provided|Perrault syndrome 1;Bifunctional peroxisomal enzyme deficiency|Perrault syndrome;Bifunctional peroxisomal enzyme deficiency|not specified
★★☆☆2026→ Residue 457
NM_000414.4(HSD17B4):c.819G>T (p.Trp273Cys)Pathogenic
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 273
NM_000414.4(HSD17B4):c.1635dup (p.Gln546fs)Pathogenic
Bifunctional peroxisomal enzyme deficiency|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome
★★☆☆2025→ Residue 546
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)Pathogenic
Perrault syndrome 1|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency|not provided|Perrault syndrome|Perrault syndrome 1;Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 568
NM_000414.4(HSD17B4):c.280+2T>CPathogenic
Perrault syndrome;Bifunctional peroxisomal enzyme deficiency|not provided|Bifunctional peroxisomal enzyme deficiency
★★☆☆2025
NM_000414.4(HSD17B4):c.788del (p.Pro263fs)Pathogenic
Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 263
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp)Pathogenic
Bifunctional peroxisomal enzyme deficiency|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome
★★☆☆2025→ Residue 457
NM_000414.4(HSD17B4):c.350A>T (p.Asp117Val)Pathogenic
Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 117
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His)Likely pathogenic
Bifunctional peroxisomal enzyme deficiency|Perrault syndrome 1
★★☆☆2025→ Residue 736
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)Pathogenic
Bifunctional peroxisomal enzyme deficiency|Perrault syndrome;Bifunctional peroxisomal enzyme deficiency|Inborn genetic diseases|Perrault syndrome 1;Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 23
NM_000414.4(HSD17B4):c.1216C>T (p.His406Tyr)Likely pathogenic
not provided|Perrault syndrome;Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 406
NM_000414.4(HSD17B4):c.1210-1G>APathogenic
Bifunctional peroxisomal enzyme deficiency|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|not provided
★★☆☆2025
NM_000414.4(HSD17B4):c.1117del (p.Cys373fs)Pathogenic
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 373
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe)Likely pathogenic
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Perrault syndrome 1
★★☆☆2025→ Residue 372
NM_000414.4(HSD17B4):c.627del (p.Val210fs)Pathogenic
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 210
NM_000414.4(HSD17B4):c.1262-1G>ALikely pathogenic
Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome 1
★★☆☆2025
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs)Pathogenic
Bifunctional peroxisomal enzyme deficiency|Perrault syndrome;Bifunctional peroxisomal enzyme deficiency|Perrault syndrome 1;Bifunctional peroxisomal enzyme deficiency
★★☆☆2025→ Residue 573