ClinVar for MedGen (Select 151934) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3763818	NM_000414.4(HSD17B4):c.401C>T (p.Ala134Val)	HSD17B4 (A110V +4 more)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome +1 more	GUncertain significance
Select item 3763737	NM_000414.4(HSD17B4):c.302+17C>T	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3762295	NM_000414.4(HSD17B4):c.1993+17A>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3761597	NM_000414.4(HSD17B4):c.1574-14C>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3761372	NM_000414.4(HSD17B4):c.1233A>G (p.Leu411=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome +1 more	GLikely benign
Select item 3761201	NM_000414.4(HSD17B4):c.715-13dup	HSD17B4	Duplication (intron variant)	Perrault syndrome +1 more	GBenign
Select item 3760961	NM_000414.4(HSD17B4):c.58+20A>T	HSD17B4	Single nucleotide variant (5 prime UTR variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 3759903	NM_000414.4(HSD17B4):c.1854+10A>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3758199	NM_000414.4(HSD17B4):c.221-20C>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3757782	NM_000414.4(HSD17B4):c.434+15G>A	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3757578	NM_000414.4(HSD17B4):c.1993+11G>C	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3757103	NM_000414.4(HSD17B4):c.1299A>T (p.Leu433=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 3755458	NM_000414.4(HSD17B4):c.1232T>A (p.Leu411Ter)	HSD17B4 (L264* +8 more)	Single nucleotide variant (nonsense +1 more)	Perrault syndrome +1 more	GPathogenic
Select item 3755360	NM_000414.4(HSD17B4):c.1209+17del	HSD17B4	Deletion (intron variant)	Perrault syndrome +1 more	GBenign
Select item 3755006	NM_000414.4(HSD17B4):c.1333+18C>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3754978	NM_000414.4(HSD17B4):c.546C>T (p.Gly182=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome +1 more	GLikely benign
Select item 3754911	NM_000414.4(HSD17B4):c.2122-7C>A	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3754508	NM_000414.4(HSD17B4):c.627del (p.Val210fs)	HSD17B4 (V101fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome +1 more	GPathogenic
Select item 3754244	NM_000414.4(HSD17B4):c.2181G>A (p.Gln727=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome +1 more	GLikely benign
Select item 3753862	NM_000414.4(HSD17B4):c.298G>A (p.Ala100Thr)	HSD17B4 (A100T +4 more)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome +1 more	GUncertain significance
Select item 3753861	NM_000414.4(HSD17B4):c.91G>A (p.Glu31Lys)	HSD17B4 (E31K +1 more)	Single nucleotide variant (missense variant +3 more)	Perrault syndrome +1 more	GUncertain significance
Select item 3753564	NM_000414.4(HSD17B4):c.1334-15T>C	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3753473	NM_000414.4(HSD17B4):c.2109T>G (p.Leu703=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome +1 more	GLikely benign
Select item 3753312	NM_000414.4(HSD17B4):c.1493C>G (p.Ser498Cys)	HSD17B4 (S351C +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome +1 more	GUncertain significance
Select item 3753189	NM_000414.4(HSD17B4):c.1855-14G>A	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3752163	NM_000414.4(HSD17B4):c.375G>A (p.Arg125=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 3751930	NM_000414.4(HSD17B4):c.434+18T>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3751669	NM_000414.4(HSD17B4):c.1504-5C>T	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3751141	NM_000414.4(HSD17B4):c.350-15A>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3749384	NM_000414.4(HSD17B4):c.2136C>T (p.Gly712=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome +1 more	GLikely benign
Select item 3748834	NM_000414.4(HSD17B4):c.1333+20T>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 3748525	NM_000414.4(HSD17B4):c.1768-12T>C	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
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 3107136	NM_000414.4(HSD17B4):c.2198A>G (p.Tyr733Cys)	HSD17B4 (Y596C +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome +2 more	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)	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

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