"Myriad Genetics, Inc."[submitter] AND "HSD17B4"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7655	NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	HSD17B4, LOC129994460 (G16S)	Single nucleotide variant (missense variant +1 more)	HSD17B4-Related Disorders +5 more	GConflicting classifications of pathogenicity
Select item 137616	NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)	HSD17B4 (A34V)	Single nucleotide variant (missense variant +3 more)	Bifunctional peroxisomal enzyme deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1725912	NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs)	HSD17B4 (D32fs +3 more)	Indel (frameshift variant +2 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1726815	NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs)	HSD17B4 (E36fs +3 more)	Indel (frameshift variant +2 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1723938	NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter)	HSD17B4 (K106* +3 more)	Single nucleotide variant (nonsense +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1724132	NM_000414.4(HSD17B4):c.290del (p.Val97fs)	HSD17B4 (S4fs +4 more)	Deletion (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1726708	NM_000414.4(HSD17B4):c.358del (p.His120fs)	HSD17B4 (H102fs +4 more)	Deletion (frameshift variant +2 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1725544	NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs)	HSD17B4 (L100fs +4 more)	Indel (frameshift variant +2 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1724206	NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs)	HSD17B4 (L100fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1725529	NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs)	HSD17B4 (L104fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1724207	NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs)	HSD17B4 (K105fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1724204	NM_000414.4(HSD17B4):c.652_656del (p.Val218fs)	HSD17B4 (V109fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1460126	NM_000414.4(HSD17B4):c.698dup (p.Asn233fs)	HSD17B4 (N209fs +8 more)	Duplication (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1726033	NM_000414.4(HSD17B4):c.947_948del (p.Ala316fs)	HSD17B4 (A169fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1726022	NM_000414.4(HSD17B4):c.1001del (p.Pro334fs)	HSD17B4 (P187fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1725982	NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer)	HSD17B4	Insertion (nonsense +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1725943	NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs)	HSD17B4 (I217fs +8 more)	Microsatellite (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1724808	NM_000414.4(HSD17B4):c.1135_1136insACTGTCTC (p.Val379fs)	HSD17B4 (V232fs +8 more)	Insertion (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1725564	NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs)	HSD17B4 (L264fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1726965	NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs)	HSD17B4 (M296fs +8 more)	Deletion (frameshift variant +2 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 7656	NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	HSD17B4 (N457Y +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1724650	NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs)	HSD17B4 (I337fs +8 more)	Indel (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1724801	NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs)	HSD17B4 (A344fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1725530	NM_000414.4(HSD17B4):c.1488del (p.Thr497fs)	HSD17B4 (T350fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1724489	NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs)	HSD17B4 (L352fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1074454	NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr)	HSD17B4 (P366T +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1725256	NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)	HSD17B4 (G386* +8 more)	Single nucleotide variant (nonsense +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1726792	NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)	HSD17B4 (C388* +8 more)	Single nucleotide variant (nonsense +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 1725096	NM_000414.4(HSD17B4):c.1660_1661del (p.Ser554fs)	HSD17B4 (S407fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic

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Items: 29