ClinVar for MedGen (Select 137982) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366513	NC_000005.9:g.(118810156_118811400)_(118811566_118813111)del	HSD17B4	Deletion	Bifunctional peroxisomal enzyme deficiency	GPathogenic
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 3254998	NM_000414.4(HSD17B4):c.760G>A (p.Gly254Arg)	HSD17B4 (G107R +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 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)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 2947000	NM_000414.4(HSD17B4):c.1098A>G (p.Glu366=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2946925	NM_000414.4(HSD17B4):c.1617T>C (p.Phe539=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2946918	NM_000414.4(HSD17B4):c.801G>A (p.Glu267=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2946745	NM_000414.4(HSD17B4):c.622+7A>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2946650	NM_000414.4(HSD17B4):c.283_302+2delinsATATAAAAAAAGAAAA	HSD17B4	Indel (splice donor variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 2946600	NM_000414.4(HSD17B4):c.1768-11C>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2946590	NM_000414.4(HSD17B4):c.1680+15C>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2946574	NM_000414.4(HSD17B4):c.261G>A (p.Leu87=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2946518	NM_000414.4(HSD17B4):c.869-4T>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2946427	NM_000414.4(HSD17B4):c.714+1G>C	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 2945810	NM_000414.4(HSD17B4):c.1767+7A>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2945649	NM_000414.4(HSD17B4):c.435-16T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2945608	NM_000414.4(HSD17B4):c.1560T>C (p.Phe520=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2945057	NM_000414.4(HSD17B4):c.350-13T>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2944654	NM_000414.4(HSD17B4):c.1680+7G>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2944652	NM_000414.4(HSD17B4):c.1209+17A>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2944570	NM_000414.4(HSD17B4):c.294C>G (p.Asn98Lys)	HSD17B4 (N123K +4 more)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 2944509	NM_000414.4(HSD17B4):c.558C>T (p.Asn186=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2944394	NM_000414.4(HSD17B4):c.132C>T (p.Asp44=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2944345	NM_000414.4(HSD17B4):c.1854+18G>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2944206	NM_000414.4(HSD17B4):c.972+14A>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2944097	NM_000414.4(HSD17B4):c.981T>G (p.Ala327=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2944054	NM_000414.4(HSD17B4):c.1993+16G>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2943972	NM_000414.4(HSD17B4):c.1993+12C>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2943966	NM_000414.4(HSD17B4):c.2121+14A>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2943837	NM_000414.4(HSD17B4):c.1818A>G (p.Ala606=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2943635	NM_000414.4(HSD17B4):c.864C>A (p.Ile288=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign

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