ClinVar for MedGen (Select 462050) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 365

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256134	Single allele	LOC129994183, LOC129994184 +1 more	Deletion	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 3246394	NC_000005.9:g.(?_87976333)_(88057095_?)del	MEF2C	Deletion	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 3246393	NC_000005.9:g.(?_88119532)_(88119605_?)del	MEF2C	Deletion	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 3024545	NM_002397.5(MEF2C):c.728dup (p.Met244fs)	MEF2C (M102fs +5 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 20	GLikely pathogenic
Select item 3012990	NM_002397.5(MEF2C):c.1011C>T (p.Asn337=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 3012989	NM_002397.5(MEF2C):c.1038A>T (p.Ser346=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 3002134	NM_002397.5(MEF2C):c.1239C>A (p.Arg413=)	MEF2C, MEF2C-AS2 (P381T +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2989535	NM_002397.5(MEF2C):c.413C>A (p.Pro138His)	MEF2C (P156H +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2984173	NM_002397.5(MEF2C):c.352A>C (p.Arg118=)	MEF2C	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2973550	NM_002397.5(MEF2C):c.539A>G (p.Asn180Ser)	MEF2C (N132S +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GBenign
Select item 2968746	NM_002397.5(MEF2C):c.105G>A (p.Leu35=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2959799	NM_002397.5(MEF2C):c.471C>T (p.Tyr157=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2919188	NM_002397.5(MEF2C):c.517G>A (p.Ala173Thr)	MEF2C (A171T +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2901166	NM_002397.5(MEF2C):c.811-17C>T	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2890584	NM_002397.5(MEF2C):c.249C>T (p.Asp83=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2881173	NM_002397.5(MEF2C):c.258+20G>A	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2879600	NM_002397.5(MEF2C):c.566G>A (p.Arg189Gln)	MEF2C (R207Q +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2859467	NM_002397.5(MEF2C):c.1100+17T>C	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2852840	NM_002397.5(MEF2C):c.534G>A (p.Gln178=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2844812	NM_002397.5(MEF2C):c.1258C>T (p.Pro420Ser)	MEF2C, MEF2C-AS2 (P398S +17 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2843618	NM_002397.5(MEF2C):c.1354C>A (p.Pro452Thr)	MEF2C, MEF2C-AS2 (P270T +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2840237	NM_002397.5(MEF2C):c.900T>A (p.Thr300=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2834907	NM_002397.5(MEF2C):c.461G>T (p.Ser154Ile)	MEF2C (S106I +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2832558	NM_002397.5(MEF2C):c.990G>T (p.Leu330=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2830591	NM_002397.5(MEF2C):c.1337C>T (p.Pro446Leu)	MEF2C, MEF2C-AS2 (P404L +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2816780	NM_002397.5(MEF2C):c.685C>T (p.Pro229Ser)	MEF2C (P103S +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2815293	NM_002397.5(MEF2C):c.1101-20G>A	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2813761	NM_002397.5(MEF2C):c.638-15G>A	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2811017	NM_002397.5(MEF2C):c.685C>A (p.Pro229Thr)	MEF2C (P87T +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2808527	NM_002397.5(MEF2C):c.54+5G>A	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2806205	NM_002397.5(MEF2C):c.1368A>C (p.Glu456Asp)	MEF2C, MEF2C-AS2 (E274D +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2803082	NM_002397.5(MEF2C):c.243C>T (p.Asn81=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2795591	NM_002397.5(MEF2C):c.312C>A (p.Asp104Glu)	MEF2C (D104E)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2780498	NM_002397.5(MEF2C):c.1396C>A (p.Arg466=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2769254	NM_002397.5(MEF2C):c.965-10T>G	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2755884	NM_002397.5(MEF2C):c.583A>G (p.Asn195Asp)	MEF2C (N53D +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2755205	NM_002397.5(MEF2C):c.810+2T>C	MEF2C	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 20	GLikely pathogenic
Select item 2753117	NM_002397.5(MEF2C):c.1135A>C (p.Asn379His)	MEF2C (N323H +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2752188	NM_002397.5(MEF2C):c.258+2T>C	MEF2C	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 2750934	NM_002397.5(MEF2C):c.1233C>T (p.His411=)	MEF2C, MEF2C-AS2 (H379Y +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2743081	NM_002397.5(MEF2C):c.403-1G>A	MEF2C	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 2741553	NM_002397.5(MEF2C):c.259-19T>C	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2726477	NM_002397.5(MEF2C):c.775A>G (p.Ile259Val)	MEF2C (I117V +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2725358	NM_002397.5(MEF2C):c.579A>G (p.Ala193=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2722532	NM_002397.5(MEF2C):c.614C>T (p.Thr205Met)	MEF2C (T157M +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2717289	NM_002397.5(MEF2C):c.664T>C (p.Ser222Pro)	MEF2C (S80P +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2714171	NM_002397.5(MEF2C):c.54+11T>C	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2713398	NM_002397.5(MEF2C):c.811-14C>T	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2710808	NM_002397.5(MEF2C):c.168G>A (p.Gln56=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2700060	NM_002397.5(MEF2C):c.810+13T>G	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2694598	NM_002397.5(MEF2C):c.522C>T (p.His174=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2692484	NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)	MEF2C (L45P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GLikely pathogenic
Select item 2664019	NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)	MEF2C (Y72*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 20	GLikely pathogenic
Select item 2585163	NM_002397.5(MEF2C):c.1072A>G (p.Met358Val)	MEF2C (M208V +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2579178	GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1	ADGRV1, ARB2A +116 more	Copy number loss	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 2572636	NM_002397.5(MEF2C):c.402+1G>A	MEF2C	Single nucleotide variant (splice donor variant +1 more)	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 2572329	NM_002397.5(MEF2C):c.241A>G (p.Asn81Asp)	MEF2C (N81D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 2572241	NM_002397.5(MEF2C):c.210delinsTAC (p.Glu71fs)	MEF2C (E71fs)	Indel (frameshift variant)	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 2571630	NM_002397.5(MEF2C):c.88AAG[1] (p.Lys31del)	MEF2C (K31del)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 2504091	NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr)	MEF2C (K30T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GLikely pathogenic
Select item 2501648	NM_002397.5(MEF2C):c.992C>T (p.Ser331Leu)	MEF2C (S181L +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20 +1 more	GUncertain significance
Select item 2442376	NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)	MEF2C (I8L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GLikely pathogenic
Select item 2442358	NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg)	MEF2C (S36R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GLikely pathogenic
Select item 2433730	NM_002397.5(MEF2C):c.480T>C (p.Pro160=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2433729	NM_002397.5(MEF2C):c.724C>G (p.Pro242Ala)	MEF2C (P100A +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2433728	NM_002397.5(MEF2C):c.43C>G (p.Arg15Gly)	MEF2C (R15G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2433727	NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser)	MEF2C, MEF2C-AS2 (H322L +17 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2430632	NM_002397.5(MEF2C):c.109G>A (p.Val37Met)	MEF2C (V37M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2424430	NC_000005.9:g.(?_88056982)_(88119605_?)del	MEF2C	Deletion	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 2424429	NC_000005.9:g.(?_88100395)_(88119605_?)del	MEF2C	Deletion	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 2424428	NC_000005.9:g.(?_88100395)_(88100638_?)del	MEF2C	Deletion	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 2196555	NM_002397.5(MEF2C):c.892G>A (p.Val298Ile)	MEF2C (V172I +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2194062	NM_002397.5(MEF2C):c.835-20C>A	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2193757	NM_002397.5(MEF2C):c.40G>A (p.Glu14Lys)	MEF2C (E14K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2192278	NM_002397.5(MEF2C):c.590-15C>G	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2180371	NM_002397.5(MEF2C):c.834+13A>G	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2169514	NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)	MEF2C (G27R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GLikely pathogenic
Select item 2165341	NM_002397.5(MEF2C):c.729A>G (p.Pro243=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2162399	NM_002397.5(MEF2C):c.638-11T>C	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2160049	NM_002397.5(MEF2C):c.965-19_965-17del	MEF2C	Microsatellite (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2157855	NM_002397.5(MEF2C):c.54+12A>C	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2152523	NM_002397.5(MEF2C):c.769G>C (p.Val257Leu)	MEF2C (V255L +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2130302	NM_002397.5(MEF2C):c.1138C>A (p.Leu380Ile)	MEF2C (L254I +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2129564	NM_002397.5(MEF2C):c.823G>C (p.Asp275His)	MEF2C (D149H +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2129539	NM_002397.5(MEF2C):c.99T>C (p.Tyr33=)	MEF2C	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2120384	NM_002397.5(MEF2C):c.259-16A>T	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2116893	NM_002397.5(MEF2C):c.1037C>T (p.Ser346Leu)	MEF2C (S298L +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2104734	NM_002397.5(MEF2C):c.128T>G (p.Ile43Ser)	MEF2C (I43S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2104733	NM_002397.5(MEF2C):c.131C>A (p.Ala44Glu)	MEF2C (A44E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2104684	NM_002397.5(MEF2C):c.655C>A (p.Pro219Thr)	MEF2C (P171T +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2104433	NM_002397.5(MEF2C):c.589+16G>T	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2100436	NM_002397.5(MEF2C):c.511C>T (p.Pro171Ser)	MEF2C (P169S +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2095950	NM_002397.5(MEF2C):c.402+19del	MEF2C	Deletion (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2092612	NM_002397.5(MEF2C):c.259-17C>T	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2091785	NM_002397.5(MEF2C):c.881del (p.Pro294fs)	MEF2C (P246fs +7 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 2090197	NM_002397.5(MEF2C):c.940G>T (p.Ala314Ser)	MEF2C (A314S +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2064391	NM_002397.5(MEF2C):c.54+13A>G	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2047332	NM_002397.5(MEF2C):c.638-7T>C	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2043703	NM_002397.5(MEF2C):c.258+3G>A	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2042114	NM_002397.5(MEF2C):c.54+6T>C	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GUncertain significance

<< First< Prev

Page of 4