"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "HSD17B1 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2714660	NM_004493.3(HSD17B10):c.750C>T (p.Val250=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022727	NM_004493.3(HSD17B10):c.741T>C (p.Asn247=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004608	NM_004493.3(HSD17B10):c.723C>T (p.Ile241=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855492	NM_004493.3(HSD17B10):c.711A>G (p.Val237=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776725	NM_004493.3(HSD17B10):c.708C>T (p.Leu236=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699064	NM_004493.3(HSD17B10):c.693T>A (p.Ala231=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163713	NM_004493.3(HSD17B10):c.685G>A (p.Asp229Asn)	HSD17B10 (D220N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2000498	NM_004493.3(HSD17B10):c.666C>T (p.Pro222=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818411	NM_004493.3(HSD17B10):c.636A>G (p.Lys212=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869503	NM_004493.3(HSD17B10):c.596-8T>C	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851210	NM_004493.3(HSD17B10):c.596-11A>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808538	NM_004493.3(HSD17B10):c.596-13C>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882042	NM_004493.3(HSD17B10):c.596-19A>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421735	NM_004493.3(HSD17B10):c.595+17_595+20del	HSD17B10	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 2864833	NM_004493.3(HSD17B10):c.595+12C>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020152	NM_004493.3(HSD17B10):c.595+8T>C	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1477980	NM_004493.3(HSD17B10):c.545T>G (p.Ile182Ser)	HSD17B10 (I182S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789083	NM_004493.3(HSD17B10):c.543C>T (p.Pro181=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918048	NM_004493.3(HSD17B10):c.531C>A (p.Gly177=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 954758	NM_004493.3(HSD17B10):c.488T>C (p.Val163Ala)	HSD17B10 (V163A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 757288	NM_004493.3(HSD17B10):c.487-6C>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720500	NM_004493.3(HSD17B10):c.487-10C>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730534	NM_004493.3(HSD17B10):c.487-13A>C	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720257	NM_004493.3(HSD17B10):c.487-13A>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928748	NM_004493.3(HSD17B10):c.487-15C>A	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962427	NM_004493.3(HSD17B10):c.487-16T>C	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877412	NM_004493.3(HSD17B10):c.487-18C>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816184	NM_004493.3(HSD17B10):c.486+19G>A	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1597731	NM_004493.3(HSD17B10):c.486+9G>A	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 646699	NM_004493.3(HSD17B10):c.486+3G>A	HSD17B10	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1418424	NM_004493.3(HSD17B10):c.480G>A (p.Glu160=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2815315	NM_004493.3(HSD17B10):c.477C>T (p.Phe159=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369621	NM_004493.3(HSD17B10):c.455A>G (p.Asn152Ser)	HSD17B10 (N152S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2803408	NM_004493.3(HSD17B10):c.453C>T (p.Ile151=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002881	NM_004493.3(HSD17B10):c.450C>T (p.Ile150=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154434	NM_004493.3(HSD17B10):c.444G>C (p.Gly148=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985330	NM_004493.3(HSD17B10):c.416A>G (p.Asn139Ser)	HSD17B10 (N139S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1386223	NM_004493.3(HSD17B10):c.409G>A (p.Gly137Ser)	HSD17B10 (G137S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11442	NM_004493.3(HSD17B10):c.388C>T (p.Arg130Cys)	HSD17B10 (R130C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2778896	NM_004493.3(HSD17B10):c.358-11C>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1623840	NM_004493.3(HSD17B10):c.358-13A>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853163	NM_004493.3(HSD17B10):c.358-15C>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642806	NM_004493.3(HSD17B10):c.357+11G>A	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694397	NM_004493.3(HSD17B10):c.354T>A (p.Leu118=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1690322	NM_004493.3(HSD17B10):c.347G>A (p.Arg116Gln)	HSD17B10 (R116Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1311532	NM_004493.3(HSD17B10):c.333G>C (p.Leu111Phe)	HSD17B10 (L111F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689225	NM_004493.3(HSD17B10):c.323C>T (p.Thr108Ile)	HSD17B10 (T108I)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease +2 more	GUncertain significance
Select item 3021866	NM_004493.3(HSD17B10):c.318C>T (p.Gly106=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698055	NM_004493.3(HSD17B10):c.318C>A (p.Gly106=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892551	NM_004493.3(HSD17B10):c.307T>C (p.Leu103=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840892	NM_004493.3(HSD17B10):c.303C>T (p.Tyr101=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728050	NM_004493.3(HSD17B10):c.300G>A (p.Thr100=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 949420	NM_004493.3(HSD17B10):c.293G>T (p.Ser98Ile)	HSD17B10 (S98I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032761	NM_004493.3(HSD17B10):c.288G>A (p.Val96=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 432904	NM_004493.3(HSD17B10):c.286G>A (p.Val96Met)	HSD17B10 (V96M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1944248	NM_004493.3(HSD17B10):c.285G>A (p.Ala95=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1021779	NM_004493.3(HSD17B10):c.284C>T (p.Ala95Val)	HSD17B10 (A95V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1585455	NM_004493.3(HSD17B10):c.283G>A (p.Ala95Thr)	HSD17B10 (A95T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2859211	NM_004493.3(HSD17B10):c.279C>T (p.Gly93=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980210	NM_004493.3(HSD17B10):c.276A>C (p.Ala92=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550953	NM_004493.3(HSD17B10):c.273T>C (p.Cys91=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435470	NM_004493.3(HSD17B10):c.259G>A (p.Val87Ile)	HSD17B10 (V87I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1160887	NM_004493.3(HSD17B10):c.243G>A (p.Lys81=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836775	NM_004493.3(HSD17B10):c.240A>C (p.Gly80=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 702573	NM_004493.3(HSD17B10):c.239G>C (p.Gly80Ala)	HSD17B10 (G80A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2201768	NM_004493.3(HSD17B10):c.233C>G (p.Ala78Gly)	HSD17B10 (A78G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718791	NM_004493.3(HSD17B10):c.201T>C (p.Ser67=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071760	NM_004493.3(HSD17B10):c.195G>A (p.Val65=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966559	NM_004493.3(HSD17B10):c.193-4G>A	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831436	NM_004493.3(HSD17B10):c.193-12CT[2]	HSD17B10	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2825359	NM_004493.3(HSD17B10):c.193-10_193-7del	HSD17B10	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3001377	NM_004493.3(HSD17B10):c.193-16A>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514800	NM_004493.3(HSD17B10):c.192+19C>T	HSD17B10	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 3015777	NM_004493.3(HSD17B10):c.192+14C>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761859	NM_004493.3(HSD17B10):c.192+12C>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797334	NM_004493.3(HSD17B10):c.192+10del	HSD17B10	Deletion (intron variant)	not provided	GBenign
Select item 2823639	NM_004493.3(HSD17B10):c.192+7G>A	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781981	NM_004493.3(HSD17B10):c.189C>T (p.Ala63=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1546297	NM_004493.3(HSD17B10):c.180C>T (p.Phe60=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006263	NM_004493.3(HSD17B10):c.171C>T (p.Asn57=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 195226	NM_004493.3(HSD17B10):c.147C>G (p.Ala49=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1464665	NM_004493.3(HSD17B10):c.146C>G (p.Ala49Gly)	HSD17B10 (A49G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435469	NM_004493.3(HSD17B10):c.144G>A (p.Glu48=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2744815	NM_004493.3(HSD17B10):c.143A>C (p.Glu48Ala)	HSD17B10 (E48A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960856	NM_004493.3(HSD17B10):c.141G>A (p.Gly47=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770788	NM_004493.3(HSD17B10):c.102A>T (p.Gly34=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182067	NM_004493.3(HSD17B10):c.98A>G (p.Gln33Arg)	HSD17B10 (Q33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853221	NM_004493.3(HSD17B10):c.90T>C (p.Leu30=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778991	NM_004493.3(HSD17B10):c.90T>G (p.Leu30=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011737	NM_004493.3(HSD17B10):c.78G>A (p.Thr26=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858559	NM_004493.3(HSD17B10):c.39G>C (p.Ala13=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821311	NM_004493.3(HSD17B10):c.33G>A (p.Leu11=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839879	NM_004493.3(HSD17B10):c.28-4A>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1538871	NM_004493.3(HSD17B10):c.28-6T>C	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991463	NM_004493.3(HSD17B10):c.28-16A>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767982	NM_004493.3(HSD17B10):c.28-20G>A	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652024	NM_004493.3(HSD17B10):c.27+20T>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728218	NM_004493.3(HSD17B10):c.27+19C>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599264	NM_004493.3(HSD17B10):c.27+19C>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2707673	NM_004493.3(HSD17B10):c.27+17C>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign

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