Related gene-specific medical variations for Gene (Select 4208) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062819	GRCh37/hg19 5q14.3(chr5:88096182-88406434)x1	MEF2C	Copy number loss	not specified	GPathogenic
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 2844812	NM_002397.5(MEF2C):c.1258C>T (p.Pro420Ser)	MEF2C, MEF2C-AS2 (P398S +17 more)	Single nucleotide variant (missense 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 (missense variant +2 more)	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 (missense variant +2 more)	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 2780498	NM_002397.5(MEF2C):c.1396C>A (p.Arg466=)	MEF2C, MEF2C-AS2	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
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 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 2655583	NM_002397.4(MEF2C):c.-548_-546CTC[5]	MEF2C, MEF2C-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
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)	Inborn genetic diseases	GLikely benign
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 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 2429818	NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)	MEF2C (P101T)	Single nucleotide variant (intron variant +2 more)	Autism spectrum disorder	GLikely pathogenic
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 2028815	NM_002397.5(MEF2C):c.1236G>A (p.Thr412=)	MEF2C, MEF2C-AS2 (A372T +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
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 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 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 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 1924953	NM_002397.5(MEF2C):c.1353A>G (p.Arg451=)	MEF2C, MEF2C-AS2	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal dominant 20	GLikely benign
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 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 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 1707717	NC_000005.9:g.(?_88625195)_(90796047_?)inv	ADGRV1, ARRDC3 +6 more	Inversion	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 1703661	GRCh37/hg19 5q14.3(chr5:88065061-88406446)	MEF2C	Copy number loss	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 1699697	NM_002397.5(MEF2C):c.1337C>G (p.Pro446Arg)	MEF2C, MEF2C-AS2 (P264R +13 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1695133	NC_000005.10:g.88480873T>G	MEF2C	Single nucleotide variant	not provided	GLikely benign
Select item 1679733	NM_002397.5(MEF2C):c.-142-25787T>G	MEF2C	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 1643979	NM_002397.5(MEF2C):c.1218G>T (p.Ser406=)	MEF2C-AS2, MEF2C (E326* +3 more)	Single nucleotide variant (synonymous 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 (synonymous 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 (missense 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 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 1249101	NM_001131005.2(MEF2C):c.-239-236T>C	MEF2C, MEF2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234212	NM_001131005.2(MEF2C):c.-143+6T>C	MEF2C, MEF2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223468	NM_002397.5(MEF2C):c.*32del	MEF2C-AS2, MEF2C	Deletion (3 prime UTR variant)	not provided	GBenign
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 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 1188545	NM_002397.5(MEF2C):c.1299G>C (p.Gly433=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GLikely benign
Select item 1177377	NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn)	MEF2C (I6N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 20	GLikely pathogenic
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 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 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 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 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 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 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 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 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 1054046	NM_002397.5(MEF2C):c.1382C>A (p.Ser461Ter)	MEF2C, MEF2C-AS2 (S279* +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
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 983329	NM_002397.5(MEF2C):c.196C>G (p.Leu66Val)	MEF2C (L66V)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 980160	GRCh37/hg19 5q14.3(chr5:88041931-88078617)x1	MEF2C	Copy number loss	not provided	GLikely pathogenic
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 974582	NM_002397.4:c.(?_-1)_(*1_?)del	MEF2C	Deletion	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 930715	NM_002397.5(MEF2C):c.965-2A>G	MEF2C	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 20	GPathogenic
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 814709	GRCh37/hg19 5q14.3(chr5:88054762-88271992)x1	MEF2C	Copy number loss	not provided	GPathogenic
Select item 812004	NM_002397.5(MEF2C):c.1095G>C (p.Gln365His)	MEF2C (Q215H +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
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 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 687155	GRCh37/hg19 5q14.3(chr5:88122457-88197779)x3	MEF2C	Copy number gain	not provided	GUncertain significance
Select item 686914	GRCh37/hg19 5q14.3(chr5:88062122-88111344)x3	MEF2C	Copy number gain	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 (3 prime UTR variant +2 more)	Intellectual disability, autosomal dominant 20	GBenign
Select item 624053	NM_002397.5(MEF2C):c.1415C>A (p.Ala472Glu)	MEF2C, MEF2C-AS2 (A462E +13 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 546974	NM_002397.5(MEF2C):c.13_14del (p.Lys5fs)	MEF2C (K5fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 538815	NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val)	MEF2C, MEF2C-AS2 (A406V +13 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
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 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 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 441978	GRCh37/hg19 5q14.3(chr5:87999726-88137439)x1	MEF2C	Copy number loss	See cases	GPathogenic
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 354607	NM_002397.4(MEF2C):c.-548_-546CTC[6]	MEF2C-AS1, MEF2C	Microsatellite (non-coding transcript variant +1 more)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	GUncertain significance
Select item 354605	NM_002397.4(MEF2C):c.-548_-546CTC[9]	MEF2C, MEF2C-AS1	Microsatellite (non-coding transcript variant +1 more)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	GUncertain significance
Select item 354604	NM_002397.4(MEF2C):c.-548_-546CTC[8]	MEF2C, MEF2C-AS1	Microsatellite (non-coding transcript variant +1 more)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations +1 more	GConflicting classifications of pathogenicity
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 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 354581	NM_002397.5(MEF2C):c.*115del	MEF2C, MEF2C-AS2	Deletion (3 prime UTR variant)	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	GUncertain significance
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 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 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 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 354559	NM_002397.5(MEF2C):c.*3046G>A	MEF2C, MEF2C-AS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely 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 289845	NM_002397.5(MEF2C):c.1332C>T (p.His444=)	MEF2C, MEF2C-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 253672	GRCh37/hg19 5q14.3(chr5:88056500-88183698)x1	MEF2C	Copy number loss	See cases	GPathogenic
Select item 253415	GRCh37/hg19 5q14.3(chr5:88018116-88183698)x1	MEF2C	Copy number loss	See cases	GPathogenic
Select item 211493	NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala)	MEF2C, MEF2C-AS2 (T393A +17 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 158885	NM_002397.5(MEF2C):c.1403C>T (p.Ser468Phe)	MEF2C, MEF2C-AS2 (S458F +13 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 20	GUncertain significance
Select item 149177	GRCh38/hg38 5q14.3(chr5:88766676-88808855)x1	MEF2C	Copy number loss	See cases	GPathogenic

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Items: 96