ClinVar for Gene (Select 3028) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062509	GRCh37/hg19 Xp11.22(chrX:53155402-53787878)	HSD17B10, HUWE1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3049737	NM_004493.3(HSD17B10):c.498T>G (p.Ala166=)	HSD17B10	Single nucleotide variant (synonymous variant)	HSD17B10-related condition	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 3022196	NM_004493.3(HSD17B10):c.15T>C (p.Cys5=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021866	NM_004493.3(HSD17B10):c.318C>T (p.Gly106=)	HSD17B10	Single nucleotide variant (synonymous 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 3015777	NM_004493.3(HSD17B10):c.192+14C>T	HSD17B10	Single nucleotide variant (intron 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 3006263	NM_004493.3(HSD17B10):c.171C>T (p.Asn57=)	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 3001377	NM_004493.3(HSD17B10):c.193-16A>G	HSD17B10	Single nucleotide variant (intron 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 2962427	NM_004493.3(HSD17B10):c.487-16T>C	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960856	NM_004493.3(HSD17B10):c.141G>A (p.Gly47=)	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 2892551	NM_004493.3(HSD17B10):c.307T>C (p.Leu103=)	HSD17B10	Single nucleotide variant (synonymous 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 2877412	NM_004493.3(HSD17B10):c.487-18C>T	HSD17B10	Single nucleotide variant (intron 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 2864833	NM_004493.3(HSD17B10):c.595+12C>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859211	NM_004493.3(HSD17B10):c.279C>T (p.Gly93=)	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 2855492	NM_004493.3(HSD17B10):c.711A>G (p.Val237=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853221	NM_004493.3(HSD17B10):c.90T>C (p.Leu30=)	HSD17B10	Single nucleotide variant (synonymous 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 2851355	NM_004493.3(HSD17B10):c.16C>A (p.Arg6=)	HSD17B10	Single nucleotide variant (synonymous 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 2841735	NM_004493.3(HSD17B10):c.12G>T (p.Ala4=)	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 2839879	NM_004493.3(HSD17B10):c.28-4A>T	HSD17B10	Single nucleotide variant (intron 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 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 2823639	NM_004493.3(HSD17B10):c.192+7G>A	HSD17B10	Single nucleotide variant (intron 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 2818411	NM_004493.3(HSD17B10):c.636A>G (p.Lys212=)	HSD17B10	Single nucleotide variant (synonymous 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 2815315	NM_004493.3(HSD17B10):c.477C>T (p.Phe159=)	HSD17B10	Single nucleotide variant (synonymous 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 2803408	NM_004493.3(HSD17B10):c.453C>T (p.Ile151=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801047	NM_004493.3(HSD17B10):c.6A>G (p.Ala2=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797334	NM_004493.3(HSD17B10):c.192+10del	HSD17B10	Deletion (intron variant)	not provided	GBenign
Select item 2789083	NM_004493.3(HSD17B10):c.543C>T (p.Pro181=)	HSD17B10	Single nucleotide variant (synonymous 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 2778991	NM_004493.3(HSD17B10):c.90T>G (p.Leu30=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778896	NM_004493.3(HSD17B10):c.358-11C>G	HSD17B10	Single nucleotide variant (intron 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 2770788	NM_004493.3(HSD17B10):c.102A>T (p.Gly34=)	HSD17B10	Single nucleotide variant (synonymous 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 2761859	NM_004493.3(HSD17B10):c.192+12C>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	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 2730534	NM_004493.3(HSD17B10):c.487-13A>C	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 2728050	NM_004493.3(HSD17B10):c.300G>A (p.Thr100=)	HSD17B10	Single nucleotide variant (synonymous 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 2720257	NM_004493.3(HSD17B10):c.487-13A>G	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717098	NM_004493.3(HSD17B10):c.27+10T>C	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714660	NM_004493.3(HSD17B10):c.750C>T (p.Val250=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707673	NM_004493.3(HSD17B10):c.27+17C>T	HSD17B10	Single nucleotide variant (intron 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 2698055	NM_004493.3(HSD17B10):c.318C>A (p.Gly106=)	HSD17B10	Single nucleotide variant (synonymous 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 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 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2684984	GRCh37/hg19 Xp11.22(chrX:53372729-53797237)x3	HSD17B10, HUWE1 +4 more	Copy number gain	not provided	GPathogenic
Select item 2664886	NM_004493.3(HSD17B10):c.62G>T (p.Gly21Val)	HSD17B10 (G21V)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GUncertain significance
Select item 2660613	NM_004493.3(HSD17B10):c.330C>G (p.Thr110=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660612	NM_004493.3(HSD17B10):c.357T>C (p.Asp119=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636224	NM_004493.3(HSD17B10):c.380A>G (p.Asn127Ser)	HSD17B10 (N127S)	Single nucleotide variant (missense variant)	HSD17B10-related condition	GLikely pathogenic
Select item 2612745	NM_004493.3(HSD17B10):c.367A>C (p.Met123Leu)	HSD17B10 (M123L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2557022	NM_004493.3(HSD17B10):c.349G>A (p.Val117Ile)	HSD17B10 (V117I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2502293	NM_004493.3(HSD17B10):c.706C>T (p.Leu236Phe)	HSD17B10 (L227F +1 more)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GLikely pathogenic
Select item 2502062	NM_004493.3(HSD17B10):c.58T>G (p.Ser20Ala)	HSD17B10 (S20A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499695	NM_004493.3(HSD17B10):c.545T>C (p.Ile182Thr)	HSD17B10 (I182T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444834	NM_004493.3(HSD17B10):c.124C>G (p.Leu42Val)	HSD17B10 (L42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442658	NM_004493.3(HSD17B10):c.299C>T (p.Thr100Met)	HSD17B10 (T100M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431021	NM_004493.3(HSD17B10):c.731C>A (p.Pro244Gln)	HSD17B10 (P235Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425564	NC_000023.10:g.(?_53423127)_(53572142_?)dup	HSD17B10, HUWE1 +2 more	Duplication	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2425562	NC_000023.10:g.(?_53222149)_(55057617_?)del	ALAS2, APEX2 +19 more	Deletion	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2425032	NC_000023.10:g.(?_53222149)_(53461292_?)dup	HSD17B10, IQSEC2 +3 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 2423727	NC_000023.10:g.(?_53272494)_(53461292_?)dup	HSD17B10, IQSEC2 +2 more	Duplication	Intellectual disability, X-linked 1	GUncertain significance
Select item 2423725	NC_000023.10:g.(?_53349595)_(53571743_?)dup	HSD17B10, HUWE1 +3 more	Duplication	Intellectual disability, X-linked 1	GLikely benign
Select item 2423724	NC_000023.10:g.(?_53222149)_(53622383_?)dup	HSD17B10, HUWE1 +6 more	Duplication	Intellectual disability, X-linked 1	GUncertain significance
Select item 2335350	NM_004493.3(HSD17B10):c.233C>T (p.Ala78Val)	HSD17B10 (A78V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2182067	NM_004493.3(HSD17B10):c.98A>G (p.Gln33Arg)	HSD17B10 (Q33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163713	NM_004493.3(HSD17B10):c.685G>A (p.Asp229Asn)	HSD17B10 (D220N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154434	NM_004493.3(HSD17B10):c.444G>C (p.Gly148=)	HSD17B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2121208	NM_004493.3(HSD17B10):c.27+17C>G	HSD17B10	Single nucleotide variant (intron 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 2032761	NM_004493.3(HSD17B10):c.288G>A (p.Val96=)	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 2000498	NM_004493.3(HSD17B10):c.666C>T (p.Pro222=)	HSD17B10	Single nucleotide variant (synonymous 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 1966559	NM_004493.3(HSD17B10):c.193-4G>A	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944248	NM_004493.3(HSD17B10):c.285G>A (p.Ala95=)	HSD17B10	Single nucleotide variant (synonymous 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

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