MEF2C[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 576

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 57325	GRCh38/hg38 5q14.3(chr5:85876480-88958682)x1	CCNH, COX7C +60 more	Copy number loss	See cases	GPathogenic
Select item 3235905	GRCh38/hg38 5q14.3(chr5:86235182-91734581)	ADGRV1, ARRDC3 +119 more	Copy number loss	5q14.3 microdeletion	GPathogenic
Select item 59628	GRCh38/hg38 5q14.3(chr5:86343721-88779835)x1	LOC129994182, LOC132089304 +52 more	Copy number loss	See cases	GPathogenic
Select item 59630	GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1	ADGRV1, ARRDC3 +117 more	Copy number loss	See cases	GPathogenic
Select item 152918	GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1	ADGRV1, ARRDC3 +116 more	Copy number loss	See cases	GPathogenic
Select item 58097	GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3	ADGRV1, ARRDC3 +120 more	Copy number gain	See cases	GPathogenic
Select item 146291	GRCh38/hg38 5q14.3(chr5:87191898-89957449)x1	CCNH, CRE1 +53 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
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 147564	GRCh38/hg38 5q14.3-15(chr5:88197732-93193163)x3	LOC110120688, LOC110120744 +99 more	Copy number gain	See cases	GPathogenic
Select item 152422	GRCh38/hg38 5q14.3(chr5:88368289-92363231)x1	LOC110120744, LOC110120771 +86 more	Copy number loss	See cases	GPathogenic
Select item 1695133	NC_000005.10:g.88480873T>G	MEF2C	Single nucleotide variant	not provided	GLikely benign
Select item 354553	NM_002397.5(MEF2C):c.*3387A>T	MEF2C, MEF2C-AS2	Single nucleotide variant (3 prime UTR variant)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	GUncertain significance
Select item 354559	NM_002397.5(MEF2C):c.*3046G>A	MEF2C, MEF2C-AS2	Single nucleotide variant (3 prime UTR variant)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations +1 more	GBenign/Likely benign
Select item 354560	NM_002397.5(MEF2C):c.*3045C>T	MEF2C, MEF2C-AS2	Single nucleotide variant (3 prime UTR variant)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	GUncertain significance
Select item 354562	NM_002397.5(MEF2C):c.2877_2878dup	MEF2C, MEF2C-AS2	Duplication (3 prime UTR variant)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	GUncertain significance
Select item 354575	NM_002397.5(MEF2C):c.2266_2267dup	MEF2C-AS2, MEF2C	Duplication (3 prime UTR variant)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	GUncertain significance
Select item 354574	NM_002397.5(MEF2C):c.*2267dup	MEF2C, MEF2C-AS2	Duplication (3 prime UTR variant)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	GBenign
Select item 354576	NM_002397.5(MEF2C):c.*2267del	MEF2C, MEF2C-AS2	Deletion (3 prime UTR variant)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	GUncertain significance
Select item 59631	GRCh38/hg38 5q14.3(chr5:88720397-89487275)x1	LOC110120688, LOC110120771 +21 more	Copy number loss	See cases	GPathogenic
Select item 354581	NM_002397.5(MEF2C):c.*115del	MEF2C, MEF2C-AS2	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 354582	NM_002397.5(MEF2C):c.51_55del	MEF2C, MEF2C-AS2	Deletion (3 prime UTR variant)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	GUncertain significance
Select item 1223468	NM_002397.5(MEF2C):c.*32del	MEF2C-AS2, MEF2C	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 354583	NM_002397.5(MEF2C):c.31_32del	MEF2C, MEF2C-AS2	Deletion (3 prime UTR variant)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	GUncertain significance
Select item 206122	NM_002397.5(MEF2C):c.*16C>G	MEF2C, MEF2C-AS2	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 978907	NM_002397.5(MEF2C):c.1420T>A (p.Ter474Arg)	MEF2C, MEF2C-AS2	Single nucleotide variant (stop lost +1 more)	Intellectual disability	GLikely pathogenic
Select item 1138303	NM_002397.5(MEF2C):c.1416A>G (p.Ala472=)	MEF2C, MEF2C-AS2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 624053	NM_002397.5(MEF2C):c.1415C>A (p.Ala472Glu)	MEF2C-AS2, MEF2C (A462E +13 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1710468	NM_002397.5(MEF2C):c.1413G>A (p.Trp471Ter)	MEF2C, MEF2C-AS2 (W289* +13 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2446049	NM_002397.5(MEF2C):c.1412G>A (p.Trp471Ter)	MEF2C, MEF2C-AS2 (W289* +13 more)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant epilepsy	GLikely pathogenic
Select item 158885	NM_002397.5(MEF2C):c.1403C>T (p.Ser468Phe)	MEF2C-AS2, MEF2C (S458F +13 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 1154594	NM_002397.5(MEF2C):c.1401T>G (p.Leu467=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 1087735	NM_002397.5(MEF2C):c.1398A>G (p.Arg466=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
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 509393	NM_002397.5(MEF2C):c.1392C>T (p.Arg464=)	MEF2C-AS2, MEF2C	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3343440	NM_002397.5(MEF2C):c.1391G>C (p.Arg464Pro)	MEF2C, MEF2C-AS2 (R282P +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 652831	NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala)	MEF2C, MEF2C-AS2 (V414A +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GBenign
Select item 1111815	NM_002397.5(MEF2C):c.1383A>T (p.Ser461=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 1054046	NM_002397.5(MEF2C):c.1382C>A (p.Ser461Ter)	MEF2C, MEF2C-AS2 (S279* +13 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 703735	NM_002397.5(MEF2C):c.1380C>T (p.Pro460=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3368865	NM_002397.5(MEF2C):c.1377_1378delinsA (p.Ser459fs)	MEF2C, MEF2C-AS2 (S277fs +13 more)	Indel (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1138304	NM_002397.5(MEF2C):c.1377T>C (p.Ser459=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 514957	NM_002397.5(MEF2C):c.1375A>G (p.Ser459Gly)	MEF2C, MEF2C-AS2 (S449G +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
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 2027563	NM_002397.5(MEF2C):c.1366G>T (p.Glu456Ter)	MEF2C, MEF2C-AS2 (E376* +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 1807551	NM_002397.5(MEF2C):c.1360C>A (p.Pro454Thr)	MEF2C, MEF2C-AS2 (P272T +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1159640	NM_002397.5(MEF2C):c.1359G>T (p.Ser453=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
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 1924953	NM_002397.5(MEF2C):c.1353A>G (p.Arg451=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 1957916	NM_002397.5(MEF2C):c.1341T>C (p.Ile447=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 1480507	NM_002397.5(MEF2C):c.1340T>C (p.Ile447Thr)	MEF2C, MEF2C-AS2 (I447T +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 1350940	NM_002397.5(MEF2C):c.1339A>G (p.Ile447Val)	MEF2C, MEF2C-AS2 (I367V +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
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 1699697	NM_002397.5(MEF2C):c.1337C>G (p.Pro446Arg)	MEF2C, MEF2C-AS2 (P264R +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20 +1 more	GUncertain significance
Select item 289845	NM_002397.5(MEF2C):c.1332C>T (p.His444=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20 +2 more	GConflicting classifications of pathogenicity
Select item 471459	NM_002397.5(MEF2C):c.1331A>C (p.His444Pro)	MEF2C, MEF2C-AS2 (H434P +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GBenign
Select item 1031130	NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln)	MEF2C, MEF2C-AS2 (R258Q +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 3343095	NM_002397.5(MEF2C):c.1306C>T (p.Arg436Ter)	MEF2C, MEF2C-AS2 (R254* +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1769520	NM_002397.5(MEF2C):c.1306C>A (p.Arg436=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 856830	NM_002397.5(MEF2C):c.1298_1303dup (p.Gly433_Ser434dup)	MEF2C, MEF2C-AS2	Duplication (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 2001043	NM_002397.5(MEF2C):c.1302C>T (p.Ser434=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2016000	NM_002397.5(MEF2C):c.1301G>A (p.Ser434Asn)	MEF2C, MEF2C-AS2 (S252N +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 1188545	NM_002397.5(MEF2C):c.1299G>C (p.Gly433=)	MEF2C, MEF2C-AS2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1080104	NM_002397.5(MEF2C):c.1299G>A (p.Gly433=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 1636966	NM_002397.5(MEF2C):c.1296C>T (p.Asp432=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 1200415	NM_002397.5(MEF2C):c.1293C>G (p.Tyr431Ter)	MEF2C, MEF2C-AS2 (Y249* +13 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 772312	NM_002397.5(MEF2C):c.1290G>C (p.Ser430=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	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 538815	NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val)	MEF2C-AS2, MEF2C (A406V +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
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 2028815	NM_002397.5(MEF2C):c.1236G>A (p.Thr412=)	MEF2C, MEF2C-AS2 (A372T +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2559408	NM_002397.5(MEF2C):c.1235C>T (p.Thr412Met)	MEF2C, MEF2C-AS2 (T254M +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 2135992	NM_002397.5(MEF2C):c.1226C>A (p.Pro409Gln)	MEF2C, MEF2C-AS2 (P251Q +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3372118	NM_002397.5(MEF2C):c.1225C>G (p.Pro409Ala)	MEF2C, MEF2C-AS2 (P227A +17 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1643979	NM_002397.5(MEF2C):c.1218G>T (p.Ser406=)	MEF2C, MEF2C-AS2 (E326* +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 1149911	NM_002397.5(MEF2C):c.1218G>A (p.Ser406=)	MEF2C, MEF2C-AS2 (E326K +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 1339223	NM_002397.5(MEF2C):c.1211C>A (p.Thr404Asn)	MEF2C, MEF2C-AS2 (H323Q +17 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 211493	NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala)	MEF2C, MEF2C-AS2 (T393A +17 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 20 +3 more	GConflicting classifications of pathogenicity
Select item 1113171	NM_002397.5(MEF2C):c.1203T>C (p.Arg401=)	MEF2C, MEF2C-AS2 (Y321H +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 1215517	NM_002397.5(MEF2C):c.1202G>A (p.Arg401His)	MEF2C, MEF2C-AS2 (R219H +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 424592	NM_002397.5(MEF2C):c.1201C>T (p.Arg401Cys)	MEF2C, MEF2C-AS2 (R391C +17 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 3365967	NM_002397.5(MEF2C):c.1174T>C (p.Ser392Pro)	MEF2C (S266P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1943494	NM_002397.5(MEF2C):c.1139T>A (p.Leu380His)	MEF2C (L332H +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 3341923	NM_002397.5(MEF2C):c.1138C>G (p.Leu380Val)	MEF2C (L254V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 1024010	NM_002397.5(MEF2C):c.1128G>C (p.Gln376His)	MEF2C (Q250H +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 20 +1 more	GUncertain significance
Select item 1571863	NM_002397.5(MEF2C):c.1119T>C (p.His373=)	MEF2C	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 20	GLikely benign
Select item 2663144	NM_002397.5(MEF2C):c.1101-3C>T	MEF2C	Single nucleotide variant (intron variant)	not provided	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 672686	NM_002397.5(MEF2C):c.1101-254C>T	MEF2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217456	NM_002397.5(MEF2C):c.1100+145T>C	MEF2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677649	NM_002397.5(MEF2C):c.1100+111T>C	MEF2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034844	NM_002397.5(MEF2C):c.1100+18T>C	MEF2C	Single nucleotide variant (intron 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 1621424	NM_002397.5(MEF2C):c.1100+6C>G	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GBenign

<< First< Prev

Page of 6