Related gene-specific medical variations for Gene (Select 3295) - ClinVar

Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362607	NM_000414.4(HSD17B4):c.230AAG[1] (p.Glu78del)	HSD17B4 (E103del +3 more)	Microsatellite (5 prime UTR variant +1 more)	Perrault syndrome 1	GUncertain significance
Select item 3362536	NM_000414.4(HSD17B4):c.302+3_307del	HSD17B4	Deletion (splice acceptor variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 3362530	NM_000414.4(HSD17B4):c.2130del (p.Phe710fs)	HSD17B4 (F563fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 3362356	NM_000414.4(HSD17B4):c.1219G>A (p.Gly407Arg)	HSD17B4 (G260R +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3246322	NC_000005.9:g.(?_118809583)_(118814736_?)del	HSD17B4	Deletion	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 3246320	NC_000005.9:g.(?_118842493)_(118844959_?)del	HSD17B4	Deletion	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 3246319	NC_000005.9:g.(?_118788261)_(118792073_?)del	HSD17B4	Deletion	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 3246318	NC_000005.9:g.(?_118788271)_(118877689_?)del	HSD17B4	Deletion	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
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 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 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 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 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 3241767	NM_000414.4(HSD17B4):c.2122-1G>A	HSD17B4	Single nucleotide variant (splice acceptor variant)	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 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 3241763	NM_000414.4(HSD17B4):c.303-27_311del	HSD17B4	Deletion (splice acceptor variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 3068222	NM_000414.4(HSD17B4):c.302+2_302+3insTGTTGT	HSD17B4	Insertion (splice donor variant)	Perrault syndrome 1	GUncertain significance
Select item 3065507	NM_000414.4(HSD17B4):c.21C>G (p.Phe7Leu)	HSD17B4 (F7L)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome 1	GUncertain significance
Select item 3065193	NM_000414.4(HSD17B4):c.1604G>T (p.Cys535Phe)	HSD17B4 (C388F +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 3064205	NM_000414.4(HSD17B4):c.1545C>G (p.His515Gln)	HSD17B4 (H368Q +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GPathogenic
Select item 3064170	NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)	HSD17B4 (Q142* +8 more)	Single nucleotide variant (nonsense +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 3061952	NM_000414.4(HSD17B4):c.430G>A (p.Gly144Arg)	HSD17B4 (G120R +5 more)	Single nucleotide variant (missense variant +3 more)	Perrault syndrome 1	GUncertain significance
Select item 2953013	NM_000414.4(HSD17B4):c.58+14G>A	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2928469	NM_000414.4(HSD17B4):c.51G>A (p.Ala17=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
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 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 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 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 2676162	NM_000414.4(HSD17B4):c.2121+1G>A	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 2676160	NM_000414.4(HSD17B4):c.972+1del	HSD17B4	Deletion (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely 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 2676158	NM_000414.4(HSD17B4):c.1681-1G>C	HSD17B4	Single nucleotide variant (splice acceptor variant)	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 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 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 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 2676152	NM_000414.4(HSD17B4):c.972+1G>A	HSD17B4	Single nucleotide variant (splice donor variant)	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 2676150	NM_000414.4(HSD17B4):c.1573+1G>A	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
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 2676148	NM_000414.4(HSD17B4):c.739+2T>C	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely 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 2676146	NM_000414.4(HSD17B4):c.1854+2T>C	HSD17B4	Single nucleotide variant (splice donor 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 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 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 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 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 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 2576607	NM_000414.4(HSD17B4):c.53G>T (p.Gly18Val)	HSD17B4, LOC129994460 (G18V)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GUncertain significance
Select item 2500745	NM_000414.4(HSD17B4):c.31dup (p.Val11fs)	HSD17B4, LOC129994460 (V11fs)	Duplication (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GPathogenic
Select item 2432538	NM_000414.4(HSD17B4):c.973G>T (p.Ala325Ser)	HSD17B4 (A178S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2203772	NM_000414.4(HSD17B4):c.244G>T (p.Val82Phe)	HSD17B4 (V82F +3 more)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome	Gnot provided
Select item 2170380	NM_000414.4(HSD17B4):c.33G>T (p.Val11=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2010040	NM_000414.4(HSD17B4):c.48C>A (p.Gly16=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1955793	NM_000414.4(HSD17B4):c.30G>A (p.Arg10=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1921189	NM_000414.4(HSD17B4):c.44C>T (p.Thr15Ile)	HSD17B4, LOC129994460 (T15I)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 1809762	NM_000414.4(HSD17B4):c.694G>A (p.Glu232Lys)	HSD17B4 (E123K +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1676487	NM_000414.4(HSD17B4):c.1484A>G (p.Asp495Gly)	HSD17B4 (D348G +8 more)	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 1676484	NM_000414.4(HSD17B4):c.1121del (p.Leu374fs)	HSD17B4 (L227fs +8 more)	Deletion	Bifunctional peroxisomal enzyme deficiency	GLikely 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 1324549	NM_000414.4(HSD17B4):c.1035del (p.Met346fs)	HSD17B4 (M199fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1252039	NM_000414.4(HSD17B4):c.302+3delinsTGTTGTGATTTTTTAGTGAATTGTGTATTTTAGTGATGTGTGTATAATTTTTTTAAAAAGTATATACTTTCCTCCTTTTACCCTATACAACATTGATTT	HSD17B4	Indel (intron variant)	Bifunctional peroxisomal enzyme deficiency	GPathogenic
Select item 1245333	NM_000414.4(HSD17B4):c.1503+254A>G	HSD17B4, LOC123497960	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215213	NM_000414.4(HSD17B4):c.1503+236C>A	HSD17B4, LOC123497960	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1140489	NM_000414.4(HSD17B4):c.45C>T (p.Thr15=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1121026	NM_000414.4(HSD17B4):c.54G>A (p.Gly18=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 1106190	NM_000414.4(HSD17B4):c.39G>T (p.Leu13=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 1085573	NM_000414.4(HSD17B4):c.58+7A>G	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 1079686	NM_000414.4(HSD17B4):c.58+10C>T	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 990988	NM_000414.4(HSD17B4):c.869-4T>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency	GUncertain significance
Select item 974782	NM_000414.4(HSD17B4):c.1544A>G (p.His515Arg)	HSD17B4 (H368R +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 945823	NM_000414.4(HSD17B4):c.58+1G>C	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 742709	NM_000414.4(HSD17B4):c.51G>T (p.Ala17=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 596252	NM_000414.4(HSD17B4):c.37C>A (p.Leu13Met)	HSD17B4, LOC129994460 (L13M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 592071	NM_000414.4(HSD17B4):c.1585C>T (p.Pro529Ser)	HSD17B4 (P529S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591993	NM_000414.4(HSD17B4):c.557A>T (p.Asn186Ile)	HSD17B4 (N186I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591600	NM_000414.4(HSD17B4):c.904del (p.Lys301_Ile302insTer)	HSD17B4	Deletion (nonsense)	not provided	GUncertain significance
Select item 591089	NM_000414.4(HSD17B4):c.1133G>A (p.Gly378Glu)	HSD17B4 (G378E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 554249	NM_000414.4(HSD17B4):c.56_58+3del	HSD17B4, LOC129994460	Deletion (5 prime UTR variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 501469	NM_000414.4(HSD17B4):c.27G>A (p.Gly9=)	LOC129994460, HSD17B4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 374711	NM_000414.4(HSD17B4):c.2179_2180del (p.Gln727fs)	HSD17B4 (Q709fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 374547	NM_000414.4(HSD17B4):c.2179_2183delinsAAA (p.Gln727fs)	HSD17B4 (Q587fs +4 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 242583	NC_000005.9:g.118792015G>T	HSD17B4 (G22C +1 more)	Single nucleotide variant (missense variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 227431	NM_000414.4(HSD17B4):c.56C>G (p.Ala19Gly)	HSD17B4, LOC129994460 (A19G)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
Select item 218138	NM_000414.4(HSD17B4):c.302+3_302+6del	HSD17B4	Deletion (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GPathogenic
Select item 7655	NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	HSD17B4, LOC129994460 (G16S)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +4 more	GPathogenic/Likely pathogenic

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Items: 88