ClinVar for Gene (Select 84466) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294097	NM_001256545.2(MEGF10):c.540C>A (p.Asp180Glu)	MEGF10 (D180E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3294096	NM_001256545.2(MEGF10):c.1562G>T (p.Arg521Leu)	MEGF10 (R521L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294095	NM_001256545.2(MEGF10):c.869A>G (p.Asp290Gly)	MEGF10 (D290G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294094	NM_001256545.2(MEGF10):c.3100A>G (p.Lys1034Glu)	MEGF10 (K1034E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294093	NM_001256545.2(MEGF10):c.4G>A (p.Val2Ile)	MEGF10 (V2I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294091	NM_001256545.2(MEGF10):c.3020T>C (p.Leu1007Ser)	MEGF10 (L1007S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294090	NM_001256545.2(MEGF10):c.1383T>A (p.Asp461Glu)	MEGF10 (D461E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3125118	NM_001256545.2(MEGF10):c.635G>C (p.Cys212Ser)	MEGF10 (C212S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125117	NM_001256545.2(MEGF10):c.3344C>G (p.Pro1115Arg)	MEGF10 (P1115R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125116	NM_001256545.2(MEGF10):c.3091G>A (p.Ala1031Thr)	MEGF10 (A1031T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125115	NM_001256545.2(MEGF10):c.3076T>C (p.Ser1026Pro)	MEGF10 (S1026P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125113	NM_001256545.2(MEGF10):c.2801C>A (p.Thr934Asn)	MEGF10 (T934N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125112	NM_001256545.2(MEGF10):c.2144C>T (p.Thr715Met)	MEGF10 (T715M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125111	NM_001256545.2(MEGF10):c.1388T>C (p.Val463Ala)	MEGF10 (V463A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062826	GRCh37/hg19 5q23.2-23.3(chr5:125506060-128162785)x3	ALDH7A1, C5orf63 +10 more	Copy number gain	not specified	GPathogenic
Select item 3035280	NM_001256545.2(MEGF10):c.606C>T (p.Thr202=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related disorder	GLikely benign
Select item 3029761	NM_001256545.2(MEGF10):c.3232+8C>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related disorder	GLikely benign
Select item 3021085	NM_001256545.2(MEGF10):c.1566G>C (p.Gly522=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 3016392	NM_001256545.2(MEGF10):c.651C>G (p.Thr217=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 3013920	NM_001256545.2(MEGF10):c.519C>T (p.Phe173=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 3012468	NM_001256545.2(MEGF10):c.129T>C (p.Thr43=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 3009691	NM_001256545.2(MEGF10):c.168C>T (p.Tyr56=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 3008639	NM_001256545.2(MEGF10):c.3026-17C>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 3006090	NM_001256545.2(MEGF10):c.2856+13G>C	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 3005765	NM_001256545.2(MEGF10):c.3026-20C>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 3002984	NM_001256545.2(MEGF10):c.475C>T (p.Leu159=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2996288	NM_001256545.2(MEGF10):c.2104+14G>C	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2995802	NM_001256545.2(MEGF10):c.1840+16G>A	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2989856	NM_001256545.2(MEGF10):c.1694-17C>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2982330	NM_001256545.2(MEGF10):c.1941C>T (p.Cys647=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2970478	NM_001256545.2(MEGF10):c.1650C>T (p.Cys550=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2956600	NM_001256545.2(MEGF10):c.2988T>C (p.Phe996=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2919764	NM_001256545.2(MEGF10):c.1824C>A (p.Gly608=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2918460	NM_001256545.2(MEGF10):c.888T>C (p.Cys296=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2916617	NM_001256545.2(MEGF10):c.2007T>C (p.Cys669=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2916101	NM_001256545.2(MEGF10):c.975G>A (p.Gln325=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2914154	NM_001256545.2(MEGF10):c.1841-20G>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2903961	NM_001256545.2(MEGF10):c.2823C>T (p.His941=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2897934	NM_001256545.2(MEGF10):c.1023T>C (p.Cys341=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2879877	NM_001256545.2(MEGF10):c.2363-10C>G	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2876495	NM_001256545.2(MEGF10):c.1254G>T (p.Gly418=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2860940	NM_001256545.2(MEGF10):c.219-18_219-14del	MEGF10	Deletion (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2860403	NM_001256545.2(MEGF10):c.721C>T (p.Gln241Ter)	MEGF10 (Q241*)	Single nucleotide variant (nonsense)	MEGF10-related myopathy	GPathogenic
Select item 2857945	NM_001256545.2(MEGF10):c.1005G>A (p.Val335=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2854542	NM_001256545.2(MEGF10):c.2086G>A (p.Gly696Ser)	MEGF10 (G696S)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 2842972	NM_001256545.2(MEGF10):c.1187G>A (p.Cys396Tyr)	MEGF10 (C396Y)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 2837450	NM_001256545.2(MEGF10):c.319+13_319+14del	MEGF10	Deletion (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2818499	NM_001256545.2(MEGF10):c.1214A>G (p.Tyr405Cys)	MEGF10 (Y405C)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 2777569	NM_001256545.2(MEGF10):c.3233-13T>C	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2776918	NM_001256545.2(MEGF10):c.413-17T>C	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2773268	NM_001256545.2(MEGF10):c.117-9del	MEGF10	Deletion (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2765168	NM_001256545.2(MEGF10):c.1738A>G (p.Asn580Asp)	MEGF10 (N580D)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 2764115	NM_001256545.2(MEGF10):c.1545G>A (p.Thr515=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2761968	NM_001256545.2(MEGF10):c.2362+14T>C	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2760742	NM_001256545.2(MEGF10):c.2104+17A>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2760470	NM_001256545.2(MEGF10):c.621G>A (p.Thr207=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2760426	NM_001256545.2(MEGF10):c.2980+20G>A	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2757239	NM_001256545.2(MEGF10):c.117-12A>C	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2747574	NM_001256545.2(MEGF10):c.2998A>G (p.Arg1000Gly)	MEGF10 (R1000G)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 2737560	NM_001256545.2(MEGF10):c.1975+20G>C	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2725493	NM_001256545.2(MEGF10):c.1693+14A>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2724207	NM_001256545.2(MEGF10):c.2729-7C>G	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2723308	NM_001256545.2(MEGF10):c.218+16G>A	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2721547	NM_001256545.2(MEGF10):c.319+17C>A	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2718549	NM_001256545.2(MEGF10):c.659+17C>G	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2714418	NM_001256545.2(MEGF10):c.651C>T (p.Thr217=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2712539	NM_001256545.2(MEGF10):c.2981-18T>A	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2712507	NM_001256545.2(MEGF10):c.2980+15C>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2711956	NM_001256545.2(MEGF10):c.660-13G>T	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2705971	NM_001256545.2(MEGF10):c.781-4G>A	MEGF10	Single nucleotide variant (intron variant)	MEGF10-related myopathy	GLikely benign
Select item 2703478	NM_001256545.2(MEGF10):c.2961C>A (p.Gly987=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2691680	NC_000005.9:g.(126758465_126769054)_(126769202_126770378)del	MEGF10	Deletion	not specified	GUncertain significance
Select item 2681395	NM_001256545.2(MEGF10):c.302G>A (p.Ser101Asn)	MEGF10 (S101N)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2655671	NM_001256545.2(MEGF10):c.3321C>A (p.Ile1107=)	MEGF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655670	NM_001256545.2(MEGF10):c.2847T>C (p.Thr949=)	MEGF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655669	NM_001256545.2(MEGF10):c.249G>A (p.Gly83=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy +1 more	GLikely benign
Select item 2623086	NM_001256545.2(MEGF10):c.19T>C (p.Ser7Pro)	MEGF10 (S7P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606167	NM_001256545.2(MEGF10):c.328G>A (p.Ala110Thr)	MEGF10 (A110T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584932	NM_001256545.2(MEGF10):c.484C>G (p.Pro162Ala)	MEGF10 (P162A)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 2501270	NC_000005.9:g.(126781386_126783248)_(126784915_126790257)del	MEGF10	Deletion	not specified	GUncertain significance
Select item 2475974	NM_001256545.2(MEGF10):c.3296A>G (p.Tyr1099Cys)	MEGF10 (Y1099C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473625	NM_001256545.2(MEGF10):c.273G>C (p.Lys91Asn)	MEGF10 (K91N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460026	NM_001256545.2(MEGF10):c.2403A>G (p.Ile801Met)	MEGF10 (I801M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443932	NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)	MEGF10 (C699S)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GLikely pathogenic
Select item 2443931	NM_001256545.2(MEGF10):c.1426+1G>T	MEGF10	Single nucleotide variant (splice donor variant)	Congenital myopathy 10b, mild variant	GPathogenic
Select item 2443930	NM_001256545.2(MEGF10):c.352T>C (p.Cys118Arg)	MEGF10	Single nucleotide variant (missense variant)	Congenital myopathy 10b, mild variant	GPathogenic
Select item 2443929	NM_001256545.2(MEGF10):c.2429G>A (p.Cys810Tyr)	MEGF10	Single nucleotide variant (missense variant)	Congenital myopathy 10b, mild variant	GPathogenic
Select item 2443928	NM_001256545.2(MEGF10):c.131_132del (p.Val44fs)	MEGF10 (V44fs)	Microsatellite (frameshift variant)	MEGF10-related myopathy	GPathogenic
Select item 2443927	NM_001256545.2(MEGF10):c.413_659del247 (p.Cys139fs)	MEGF10 (C139fs)	Deletion (frameshift variant)	MEGF10-related myopathy	GPathogenic
Select item 2443926	NM_001256545.2(MEGF10):c.2981-2A>G	MEGF10	Single nucleotide variant (splice acceptor variant)	Congenital myopathy 10b, mild variant	GPathogenic
Select item 2441377	NM_001256545.2(MEGF10):c.2104+1G>T	MEGF10	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2430492	NM_001256545.2(MEGF10):c.1099C>T (p.Arg367Trp)	MEGF10 (R367W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2421753	NM_001256545.2(MEGF10):c.3232+1G>A	MEGF10	Single nucleotide variant (splice donor variant)	MEGF10-related myopathy	GUncertain significance
Select item 2421631	NM_001256545.2(MEGF10):c.1841T>A (p.Ile614Asn)	MEGF10 (I614N)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 2415610	NM_001256545.2(MEGF10):c.470G>A (p.Gly157Glu)	MEGF10 (G157E)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 2415187	NM_001256545.2(MEGF10):c.2338T>C (p.Phe780Leu)	MEGF10 (F780L)	Single nucleotide variant (missense variant)	MEGF10-related myopathy +1 more	GUncertain significance
Select item 2415057	NM_001256545.2(MEGF10):c.2733C>A (p.Thr911=)	MEGF10	Single nucleotide variant (synonymous variant)	MEGF10-related myopathy	GLikely benign
Select item 2340382	NM_001256545.2(MEGF10):c.623G>C (p.Gly208Ala)	MEGF10 (G208A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322799	NM_001256545.2(MEGF10):c.3238A>G (p.Thr1080Ala)	MEGF10 (T1080A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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