"Baylor Genetics"[submitter] AND "HSD17B4"[gene] - ClinVar

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676163	NM_000414.4(HSD17B4):c.25_44del (p.Gly9fs)	HSD17B4, LOC129994460 (G9fs)	Deletion (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241764	NM_000414.4(HSD17B4):c.43A>G (p.Thr15Ala)	HSD17B4, LOC129994460 (T15A)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 7655	NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	HSD17B4, LOC129994460 (G16S)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 1459623	NM_000414.4(HSD17B4):c.58+1G>T	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2676161	NM_000414.4(HSD17B4):c.59-1G>A	HSD17B4	Single nucleotide variant (splice acceptor variant +1 more)	Perrault syndrome +1 more	GLikely pathogenic
Select item 371607	NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)	HSD17B4 (P26L +1 more)	Single nucleotide variant (nonsense +3 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
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 3241772	NM_000414.4(HSD17B4):c.112+1G>A	HSD17B4	Single nucleotide variant (splice donor variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676142	NM_000414.4(HSD17B4):c.177del (p.Glu60fs)	HSD17B4 (E36fs +3 more)	Deletion (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676165	NM_000414.4(HSD17B4):c.212_216del (p.Ala71fs)	HSD17B4 (A47fs +3 more)	Deletion (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2058940	NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)	HSD17B4 (D50N +3 more)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome +1 more	GConflicting classifications of pathogenicity
Select item 550351	NM_000414.4(HSD17B4):c.270del (p.Phe90fs)	HSD17B4 (F72fs +3 more)	Deletion (frameshift variant +1 more)	Perrault syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1066269	NM_000414.4(HSD17B4):c.280+2T>C	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2676159	NM_000414.4(HSD17B4):c.297_298delinsCAT (p.Ala100fs)	HSD17B4 (A100fs +4 more)	Indel (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241763	NM_000414.4(HSD17B4):c.303-27_311del	HSD17B4	Deletion (splice acceptor variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676166	NM_000414.4(HSD17B4):c.350-1G>A	HSD17B4	Single nucleotide variant (splice acceptor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676145	NM_000414.4(HSD17B4):c.350A>T (p.Asp117Val)	HSD17B4 (D117V +4 more)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GPathogenic
Select item 554818	NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)	HSD17B4 (R132W +3 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic/Likely pathogenic
Select item 7659	NM_000414.4(HSD17B4):c.423_424del (p.Lys142fs)	HSD17B4 (K118fs +4 more)	Deletion (frameshift variant)	Bifunctional peroxisomal enzyme deficiency	GPathogenic
Select item 2676149	NM_000414.4(HSD17B4):c.435-2A>G	HSD17B4	Single nucleotide variant (splice acceptor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676154	NM_000414.4(HSD17B4):c.581_612del (p.Pro194fs)	HSD17B4 (P170fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2445953	NM_000414.4(HSD17B4):c.623-2A>G	HSD17B4	Single nucleotide variant (splice acceptor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 1027412	NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)	HSD17B4 (V109L +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 1029245	NM_000414.4(HSD17B4):c.673C>T (p.Leu225Phe)	HSD17B4 (L250F +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 2025376	NM_000414.4(HSD17B4):c.715-1G>A	HSD17B4	Single nucleotide variant (splice acceptor variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2676140	NM_000414.4(HSD17B4):c.725del (p.Gly242fs)	HSD17B4 (G102fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2092383	NM_000414.4(HSD17B4):c.739+1G>T	HSD17B4	Single nucleotide variant (splice donor variant)	Perrault syndrome +1 more	GLikely pathogenic
Select item 1066366	NM_000414.4(HSD17B4):c.739+1G>A	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 2676148	NM_000414.4(HSD17B4):c.739+2T>C	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676155	NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)	HSD17B4 (L100* +8 more)	Single nucleotide variant (nonsense +1 more)	Perrault syndrome +1 more	GPathogenic/Likely pathogenic
Select item 371366	NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)	HSD17B4 (R248C +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GPathogenic/Likely pathogenic
Select item 430263	NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)	HSD17B4 (R248H +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency +3 more	GConflicting classifications of pathogenicity
Select item 872350	NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln)	HSD17B4 (R111Q +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GConflicting classifications of pathogenicity
Select item 242582	NC_000005.9:g.118829592G>T	HSD17B4 (W273C +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic/Likely pathogenic
Select item 632857	NM_000414.4(HSD17B4):c.868+1del	HSD17B4	Deletion (splice donor variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GPathogenic/Likely pathogenic
Select item 370147	NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter)	HSD17B4 (S291* +4 more)	Single nucleotide variant (nonsense)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 504023	NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)	HSD17B4	Deletion (frameshift variant)	Perrault syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2676160	NM_000414.4(HSD17B4):c.972+1del	HSD17B4	Deletion (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676152	NM_000414.4(HSD17B4):c.972+1G>A	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241768	NM_000414.4(HSD17B4):c.986dup (p.Gln330fs)	HSD17B4 (Q183fs +8 more)	Duplication (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241766	NM_000414.4(HSD17B4):c.1079del (p.Asp360fs)	HSD17B4 (D213fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 595157	NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg)	HSD17B4 (G378R +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GConflicting classifications of pathogenicity
Select item 559071	NM_000414.4(HSD17B4):c.1210-11C>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 551541	NM_000414.4(HSD17B4):c.1210-1G>A	HSD17B4	Single nucleotide variant (splice acceptor variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2676147	NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)	HSD17B4 (L258P +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 1441941	NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs)	HSD17B4 (E265fs +8 more)	Duplication (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic/Likely pathogenic
Select item 7656	NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	HSD17B4 (N457Y +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 1324548	NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs)	HSD17B4 (F315fs +8 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1878649	NM_000414.4(HSD17B4):c.1480dup (p.Thr494fs)	HSD17B4 (T347fs +8 more)	Duplication (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676144	NM_000414.4(HSD17B4):c.1503+1G>A	HSD17B4	Single nucleotide variant (splice donor variant)	Perrault syndrome +1 more	GLikely pathogenic
Select item 495866	NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)	HSD17B4 (R506C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 554817	NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)	HSD17B4 (R506H +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic/Likely pathogenic
Select item 137617	NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)	HSD17B4 (I516T +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency +3 more	GPathogenic/Likely pathogenic
Select item 2676150	NM_000414.4(HSD17B4):c.1573+1G>A	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 550162	NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg)	HSD17B4 (H532R +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency	GConflicting classifications of pathogenicity
Select item 371505	NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs)	HSD17B4 (L545fs +8 more)	Microsatellite (frameshift variant +1 more)	Perrault syndrome +1 more	GPathogenic/Likely pathogenic
Select item 137619	NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)	HSD17B4 (R543P +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 2676139	NM_000414.4(HSD17B4):c.1635dup (p.Gln546fs)	HSD17B4 (Q399fs +8 more)	Duplication (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676143	NM_000414.4(HSD17B4):c.1636C>T (p.Gln546Ter)	HSD17B4 (Q399* +8 more)	Single nucleotide variant (nonsense +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241771	NM_000414.4(HSD17B4):c.1661_1664delinsTGCAGATA (p.Ser554fs)	HSD17B4 (S407fs +8 more)	Indel (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676158	NM_000414.4(HSD17B4):c.1681-1G>C	HSD17B4	Single nucleotide variant (splice acceptor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 655256	NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)	HSD17B4 (Y428* +4 more)	Single nucleotide variant (nonsense)	Bifunctional peroxisomal enzyme deficiency +2 more	GPathogenic
Select item 3241770	NM_000414.4(HSD17B4):c.1715dup (p.Leu573fs)	HSD17B4 (L426fs +8 more)	Duplication (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676151	NM_000414.4(HSD17B4):c.1736del (p.Lys579fs)	HSD17B4 (K432fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2445738	NM_000414.4(HSD17B4):c.1768-1G>A	HSD17B4	Single nucleotide variant (splice acceptor variant)	Bifunctional peroxisomal enzyme deficiency	GPathogenic/Likely pathogenic
Select item 3241769	NM_000414.4(HSD17B4):c.1844_1853delinsGGG (p.Thr615fs)	HSD17B4 (T468fs +8 more)	Indel (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676146	NM_000414.4(HSD17B4):c.1854+2T>C	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676164	NM_000414.4(HSD17B4):c.1973del (p.Gly658fs)	HSD17B4 (G511fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676157	NM_000414.4(HSD17B4):c.1994-1G>A	HSD17B4	Single nucleotide variant (splice acceptor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2664882	NM_000414.4(HSD17B4):c.1994-1G>C	HSD17B4	Single nucleotide variant (splice acceptor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676156	NM_000414.4(HSD17B4):c.2059del (p.Thr687fs)	HSD17B4 (T540fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676153	NM_000414.4(HSD17B4):c.2071dup (p.Ser691fs)	HSD17B4 (S544fs +8 more)	Duplication (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676141	NM_000414.4(HSD17B4):c.2072C>G (p.Ser691Ter)	HSD17B4 (S544* +8 more)	Single nucleotide variant (nonsense +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 555830	NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)	HSD17B4 (Q706* +4 more)	Single nucleotide variant (nonsense)	Perrault syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2676162	NM_000414.4(HSD17B4):c.2121+1G>A	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3241767	NM_000414.4(HSD17B4):c.2122-1G>A	HSD17B4	Single nucleotide variant (splice acceptor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 1030778	NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His)	HSD17B4 (L589H +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic

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Items: 77