ClinVar for Gene (Select 3295) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107138	NM_000414.4(HSD17B4):c.561T>G (p.Ile187Met)	HSD17B4 (I184M +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107137	NM_000414.4(HSD17B4):c.328A>G (p.Arg110Gly)	HSD17B4 (R135G +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3107136	NM_000414.4(HSD17B4):c.2198A>G (p.Tyr733Cys)	HSD17B4 (Y596C +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107135	NM_000414.4(HSD17B4):c.2014T>C (p.Ser672Pro)	HSD17B4 (S525P +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107134	NM_000414.4(HSD17B4):c.1898G>T (p.Arg633Leu)	HSD17B4 (R493L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107132	NM_000414.4(HSD17B4):c.1890A>C (p.Glu630Asp)	HSD17B4 (E612D +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107131	NM_000414.4(HSD17B4):c.1652A>G (p.Asn551Ser)	HSD17B4 (N442S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107129	NM_000414.4(HSD17B4):c.1457A>T (p.Asn486Ile)	HSD17B4 (N377I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107128	NM_000414.4(HSD17B4):c.1247C>A (p.Pro416Gln)	HSD17B4 (P276Q +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107127	NM_000414.4(HSD17B4):c.109G>T (p.Val37Phe)	HSD17B4 (C40F +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
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 3062851	GRCh37/hg19 5q23.1(chr5:118652708-119109588)x3	FAM170A, HSD17B4 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
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 3060920	NM_000414.4(HSD17B4):c.113-2203T>A	HSD17B4	Single nucleotide variant (intron variant)	HSD17B4-related disorder	GLikely benign
Select item 3058315	NM_000414.4(HSD17B4):c.58+147C>T	HSD17B4	Single nucleotide variant (synonymous variant +3 more)	HSD17B4-related disorder	GLikely benign
Select item 3058151	NM_000414.4(HSD17B4):c.-20T>C	HSD17B4	Single nucleotide variant (5 prime UTR variant +1 more)	HSD17B4-related disorder	GLikely benign
Select item 3046708	NM_000414.4(HSD17B4):c.1210-21A>C	HSD17B4	Single nucleotide variant (intron variant)	HSD17B4-related disorder	GLikely benign
Select item 3036716	NM_000414.4(HSD17B4):c.58+197C>G	HSD17B4	Single nucleotide variant (intron variant)	HSD17B4-related disorder	GLikely benign
Select item 3036262	NM_000414.4(HSD17B4):c.434+4G>A	HSD17B4	Single nucleotide variant (intron variant)	HSD17B4-related disorder	GLikely benign
Select item 3036040	NM_000414.4(HSD17B4):c.113-2260A>G	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	HSD17B4-related disorder	GLikely benign
Select item 3031608	NM_000414.4(HSD17B4):c.1104T>C (p.Ser368=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	HSD17B4-related disorder	GLikely benign
Select item 3029754	NM_000414.4(HSD17B4):c.58+180C>A	HSD17B4	Single nucleotide variant (synonymous variant +3 more)	HSD17B4-related disorder	GLikely benign
Select item 3029740	NM_000414.4(HSD17B4):c.938C>G (p.Thr313Ser)	HSD17B4 (T166S +8 more)	Single nucleotide variant (missense variant +1 more)	HSD17B4-related disorder	GUncertain significance
Select item 3029344	NM_000414.4(HSD17B4):c.113-2265A>C	HSD17B4 (N44H)	Single nucleotide variant (missense variant +2 more)	HSD17B4-related disorder	GUncertain significance
Select item 2954186	NM_000414.4(HSD17B4):c.303-12T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953951	NM_000414.4(HSD17B4):c.1209+19C>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953839	NM_000414.4(HSD17B4):c.1935A>G (p.Lys645=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 2953698	NM_000414.4(HSD17B4):c.1592T>G (p.Leu531Ter)	HSD17B4 (L391* +8 more)	Single nucleotide variant (nonsense +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 2953647	NM_000414.4(HSD17B4):c.885A>C (p.Ile295=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953570	NM_000414.4(HSD17B4):c.1504-6C>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953433	NM_000414.4(HSD17B4):c.1768-17T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953311	NM_000414.4(HSD17B4):c.1476A>C (p.Val492=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953070	NM_000414.4(HSD17B4):c.1428C>T (p.Asp476=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953051	NM_000414.4(HSD17B4):c.1587C>T (p.Pro529=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
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 2952925	NM_000414.4(HSD17B4):c.739+13C>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952811	NM_000414.4(HSD17B4):c.1333+1G>A	HSD17B4	Single nucleotide variant (splice donor variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 2952795	NM_000414.4(HSD17B4):c.1262-15T>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952790	NM_000414.4(HSD17B4):c.660T>C (p.Pro220=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952713	NM_000414.4(HSD17B4):c.1854+9T>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952589	NM_000414.4(HSD17B4):c.1768-6C>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952455	NM_000414.4(HSD17B4):c.2064C>A (p.Ile688=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2952234	NM_000414.4(HSD17B4):c.373C>A (p.Arg125=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951897	NM_000414.4(HSD17B4):c.715-10T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951871	NM_000414.4(HSD17B4):c.113-15G>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951772	NM_000414.4(HSD17B4):c.221-9T>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951640	NM_000414.4(HSD17B4):c.363_364del (p.Arg121fs)	HSD17B4 (R103fs +4 more)	Microsatellite (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 2951575	NM_000414.4(HSD17B4):c.1209+14A>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951523	NM_000414.4(HSD17B4):c.1573+17A>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951480	NM_000414.4(HSD17B4):c.657A>G (p.Ala219=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951362	NM_000414.4(HSD17B4):c.1573+15A>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951001	NM_000414.4(HSD17B4):c.1855-13T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2950993	NM_000414.4(HSD17B4):c.1680+15C>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2950777	NM_000414.4(HSD17B4):c.972+9dup	HSD17B4	Duplication (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2950540	NM_000414.4(HSD17B4):c.1821A>C (p.Pro607=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2950449	NM_000414.4(HSD17B4):c.828C>T (p.Ile276=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2950109	NM_000414.4(HSD17B4):c.1994-17C>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2950007	NM_000414.4(HSD17B4):c.1974A>C (p.Gly658=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2949835	NM_000414.4(HSD17B4):c.350-14A>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2949823	NM_000414.4(HSD17B4):c.1578dup (p.Asp527Ter)	HSD17B4 (D390* +8 more)	Duplication (nonsense +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 2949426	NM_000414.4(HSD17B4):c.579T>C (p.Ala193=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2949297	NM_000414.4(HSD17B4):c.59-4T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2949196	NM_000414.4(HSD17B4):c.1768-14dup	HSD17B4	Duplication (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2948928	NM_000414.4(HSD17B4):c.396G>C (p.Arg132=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2948867	NM_000414.4(HSD17B4):c.187A>T (p.Arg63Ter)	HSD17B4 (R88* +3 more)	Single nucleotide variant (nonsense +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 2948810	NM_000414.4(HSD17B4):c.639G>A (p.Leu213=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2948788	NM_000414.4(HSD17B4):c.1680+9G>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2948774	NM_000414.4(HSD17B4):c.1944T>G (p.Ala648=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2948773	NM_000414.4(HSD17B4):c.1261+1G>T	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 2948687	NM_000414.4(HSD17B4):c.280+20T>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2948501	NM_000414.4(HSD17B4):c.2122-12C>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2948457	NM_000414.4(HSD17B4):c.889G>T (p.Glu297Ter)	HSD17B4 (E294* +8 more)	Single nucleotide variant (nonsense +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 2948446	NM_000414.4(HSD17B4):c.2122-18T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2948413	NM_000414.4(HSD17B4):c.2121+20A>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2948242	NM_000414.4(HSD17B4):c.1503+8T>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2947996	NM_000414.4(HSD17B4):c.1209+17A>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2947930	NM_000414.4(HSD17B4):c.609A>G (p.Thr203=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2947792	NM_000414.4(HSD17B4):c.1293T>C (p.Asp431=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2947688	NM_000414.4(HSD17B4):c.435-8C>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2947647	NM_000414.4(HSD17B4):c.1574-17G>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2947227	NM_000414.4(HSD17B4):c.1499_1502del (p.Asn500fs)	HSD17B4 (N353fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome +1 more	GPathogenic
Select item 2947000	NM_000414.4(HSD17B4):c.1098A>G (p.Glu366=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome +1 more	GLikely benign
Select item 2946925	NM_000414.4(HSD17B4):c.1617T>C (p.Phe539=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome +1 more	GLikely benign
Select item 2946918	NM_000414.4(HSD17B4):c.801G>A (p.Glu267=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome +1 more	GLikely benign
Select item 2946745	NM_000414.4(HSD17B4):c.622+7A>C	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 2946650	NM_000414.4(HSD17B4):c.283_302+2delinsATATAAAAAAAGAAAA	HSD17B4	Indel (splice donor variant +1 more)	Perrault syndrome +1 more	GPathogenic
Select item 2946600	NM_000414.4(HSD17B4):c.1768-11C>T	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 2946590	NM_000414.4(HSD17B4):c.1680+15C>T	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 2946574	NM_000414.4(HSD17B4):c.261G>A (p.Leu87=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 2946518	NM_000414.4(HSD17B4):c.869-4T>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 2946427	NM_000414.4(HSD17B4):c.714+1G>C	HSD17B4	Single nucleotide variant (splice donor variant)	Perrault syndrome +1 more	GLikely pathogenic
Select item 2945810	NM_000414.4(HSD17B4):c.1767+7A>C	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 2945649	NM_000414.4(HSD17B4):c.435-16T>C	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 2945608	NM_000414.4(HSD17B4):c.1560T>C (p.Phe520=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome +1 more	GLikely benign
Select item 2945057	NM_000414.4(HSD17B4):c.350-13T>A	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign

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