ClinVar for MedGen (Select 462050) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26640191.	NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter) GRCh37: Chr5:88100457 GRCh38: Chr5:88804640	MEF2C	Y72*	Intellectual disability, autosomal dominant 20	Likely pathogenic (Nov 24, 2023)	no assertion criteria provided
Select item 25851632.	NM_002397.5(MEF2C):c.1072A>G (p.Met358Val) GRCh37: Chr5:88024338 GRCh38: Chr5:88728521	MEF2C	M208V, M310V, M358V, M350V, M368V, M348V, M232V, M302V	Intellectual disability, autosomal dominant 20	Uncertain significance	criteria provided, single submitter
Select item 25791783.	GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1 GRCh38: Chr5:88189536-93784597	ADGRV1, ARB2A, ARRDC3, ARRDC3-AS1, CETN3, CRE1, LINC01339, LINC02060, LOC102724637, LOC105379082, LOC110120605, LOC110120640, LOC110120688, LOC110120699, LOC110120744, LOC110120771, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121147, LOC121079950, LOC123497931, LOC123497932, LOC123497933, LOC123497934, LOC123497935, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC126807447, LOC126807448, LOC126807449, LOC126807450, LOC126807451, LOC126807452, LOC128772265, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273, LOC129389317, LOC129389318, LOC129389319, LOC129389320, LOC129389321, LOC129994175, LOC129994176, LOC129994177, LOC129994178, LOC129994179, LOC129994180, LOC129994181, LOC129994182, LOC129994183, LOC129994184, LOC129994185, LOC129994186, LOC129994187, LOC129994188, LOC129994189, LOC129994190, LOC129994191, LOC129994192, LOC129994193, LOC129994194, LOC129994195, LOC129994196, LOC129994197, LOC129994198, LOC129994199, LOC129994200, LOC129994201, LOC129994202, LOC129994203, LOC129994204, LOC129994205, LOC129994206, LOC129994207, LOC129994208, LOC129994209, LOC129994210, LOC129994211, LOC129994212, LOC129994213, LOC129994214, LOC129994215, LOC129994216, LOC731157, LUCAT1, LYSMD3, MBLAC2, MEF2C, MEF2C-AS1, MEF2C-AS2, MIR2277, MIR3660, MIR9-2, MIR9-2HG, NR2F1, NR2F1-AS1, POLR3G, POU5F2, TMEM161B, TMEM161B-DT		Intellectual disability, autosomal dominant 20	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25726364.	NM_002397.5(MEF2C):c.402+1G>A GRCh37: Chr5:88057001 GRCh38: Chr5:88761184	MEF2C		Intellectual disability, autosomal dominant 20	Pathogenic (Feb 17, 2023)	criteria provided, single submitter
Select item 25723295.	NM_002397.5(MEF2C):c.241A>G (p.Asn81Asp) GRCh37: Chr5:88100432 GRCh38: Chr5:88804615	MEF2C	N81D	Intellectual disability, autosomal dominant 20	Pathogenic (Apr 13, 2023)	criteria provided, single submitter
Select item 25722416.	NM_002397.5(MEF2C):c.210delinsTAC (p.Glu71fs) GRCh37: Chr5:88100463 GRCh38: Chr5:88804646	MEF2C	E71fs	Intellectual disability, autosomal dominant 20	Pathogenic (May 31, 2023)	criteria provided, single submitter
Select item 25716307.	NM_002397.5(MEF2C):c.88AAG[1] (p.Lys31del) GRCh37: Chr5:88100580-88100582 GRCh38: Chr5:88804763-88804765	MEF2C	K31del	Intellectual disability, autosomal dominant 20	Pathogenic (May 31, 2023)	criteria provided, single submitter
Select item 25040918.	NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr) GRCh37: Chr5:88100584 GRCh38: Chr5:88804767	MEF2C	K30T	Intellectual disability, autosomal dominant 20	Likely pathogenic (May 8, 2023)	criteria provided, single submitter
Select item 24423769.	NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu) GRCh37: Chr5:88119584 GRCh38: Chr5:88823767	MEF2C	I8L	Intellectual disability, autosomal dominant 20	Likely pathogenic (Dec 16, 2019)	criteria provided, single submitter
Select item 244235810.	NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg) GRCh37: Chr5:88100567 GRCh38: Chr5:88804750	MEF2C	S36R	Intellectual disability, autosomal dominant 20	Likely pathogenic (Oct 15, 2020)	criteria provided, single submitter
Select item 243373011.	NM_002397.5(MEF2C):c.480T>C (p.Pro160=) GRCh37: Chr5:88047783 GRCh38: Chr5:88751966	MEF2C		Intellectual disability, autosomal dominant 20	Uncertain significance (Nov 6, 2020)	criteria provided, single submitter
Select item 243372912.	NM_002397.5(MEF2C):c.724C>G (p.Pro242Ala) GRCh37: Chr5:88027632 GRCh38: Chr5:88731815	MEF2C	P100A, P116A, P194A, P240A, P242A, P260A	Intellectual disability, autosomal dominant 20	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 243372813.	NM_002397.5(MEF2C):c.43C>G (p.Arg15Gly) GRCh37: Chr5:88119563 GRCh38: Chr5:88823746	MEF2C	R15G	Intellectual disability, autosomal dominant 20	Uncertain significance (Dec 6, 2019)	criteria provided, single submitter
Select item 243372714.	NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser) GRCh37: Chr5:88018636 GRCh38: Chr5:88722819	MEF2C, MEF2C-AS2	H322L, H360L, H362L, H370L, T221S, T245S, T277S, T323S, T347S, T355S, T361S, T363S, T371S, T381S, T393S, T395S, T403S, T413S	Intellectual disability, autosomal dominant 20	Uncertain significance (Jun 18, 2020)	criteria provided, single submitter
Select item 242443015.	NC_000005.9:g.(?_88056982)_(88119605_?)del GRCh37: Chr5:88056982-88119605	MEF2C		Intellectual disability, autosomal dominant 20	Pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 242442916.	NC_000005.9:g.(?_88100395)_(88119605_?)del GRCh37: Chr5:88100395-88119605	MEF2C		Intellectual disability, autosomal dominant 20	Pathogenic (Sep 25, 2022)	criteria provided, single submitter
Select item 242442817.	NC_000005.9:g.(?_88100395)_(88100638_?)del GRCh37: Chr5:88100395-88100638	MEF2C		Intellectual disability, autosomal dominant 20	Pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 219655518.	NM_002397.5(MEF2C):c.892G>A (p.Val298Ile) GRCh37: Chr5:88025107 GRCh38: Chr5:88729290	MEF2C	V172I, V308I, V148I, V288I, V242I, V298I, V250I, V290I	Intellectual disability, autosomal dominant 20	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 219406219.	NM_002397.5(MEF2C):c.835-20C>A GRCh37: Chr5:88025184 GRCh38: Chr5:88729367	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 219375720.	NM_002397.5(MEF2C):c.40G>A (p.Glu14Lys) GRCh37: Chr5:88119566 GRCh38: Chr5:88823749	MEF2C	E14K	Intellectual disability, autosomal dominant 20	Uncertain significance (Nov 28, 2021)	criteria provided, single submitter
Select item 219227821.	NM_002397.5(MEF2C):c.590-15C>G GRCh37: Chr5:88044949 GRCh38: Chr5:88749132	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 218037122.	NM_002397.5(MEF2C):c.834+13A>G GRCh37: Chr5:88026015 GRCh38: Chr5:88730198	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 216951423.	NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg) GRCh37: Chr5:88100594 GRCh38: Chr5:88804777	MEF2C	G27R	Intellectual disability, autosomal dominant 20	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 216534124.	NM_002397.5(MEF2C):c.729A>G (p.Pro243=) GRCh37: Chr5:88027627 GRCh38: Chr5:88731810	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 216239925.	NM_002397.5(MEF2C):c.638-11T>C GRCh37: Chr5:88027729 GRCh38: Chr5:88731912	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 216004926.	NM_002397.5(MEF2C):c.965-19_965-17del GRCh37: Chr5:88024462-88024464 GRCh38: Chr5:88728645-88728647	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Dec 16, 2021)	criteria provided, single submitter
Select item 215785527.	NM_002397.5(MEF2C):c.54+12A>C GRCh37: Chr5:88119540 GRCh38: Chr5:88823723	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 215252328.	NM_002397.5(MEF2C):c.769G>C (p.Val257Leu) GRCh37: Chr5:88027587 GRCh38: Chr5:88731770	MEF2C	V255L, V115L, V209L, V275L, V131L, V257L	Intellectual disability, autosomal dominant 20	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 213030229.	NM_002397.5(MEF2C):c.1138C>A (p.Leu380Ile) GRCh37: Chr5:88018705 GRCh38: Chr5:88722888	MEF2C	L254I, L332I, L370I, L372I, L390I, L324I, L380I	Intellectual disability, autosomal dominant 20	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 212956430.	NM_002397.5(MEF2C):c.823G>C (p.Asp275His) GRCh37: Chr5:88026039 GRCh38: Chr5:88730222	MEF2C	D149H, D227H, D275H	Intellectual disability, autosomal dominant 20	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 212953931.	NM_002397.5(MEF2C):c.99T>C (p.Tyr33=) GRCh37: Chr5:88100574 GRCh38: Chr5:88804757	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 212038432.	NM_002397.5(MEF2C):c.259-16A>T GRCh37: Chr5:88057161 GRCh38: Chr5:88761344	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211689333.	NM_002397.5(MEF2C):c.1037C>T (p.Ser346Leu) GRCh37: Chr5:88024373 GRCh38: Chr5:88728556	MEF2C	S298L, S338L, S220L, S336L, S346L, S356L, S196L, S290L	Intellectual disability, autosomal dominant 20	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 210473434.	NM_002397.5(MEF2C):c.128T>G (p.Ile43Ser) GRCh37: Chr5:88100545 GRCh38: Chr5:88804728	MEF2C	I43S	Intellectual disability, autosomal dominant 20	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 210473335.	NM_002397.5(MEF2C):c.131C>A (p.Ala44Glu) GRCh37: Chr5:88100542 GRCh38: Chr5:88804725	MEF2C	A44E	Intellectual disability, autosomal dominant 20	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 210468436.	NM_002397.5(MEF2C):c.655C>A (p.Pro219Thr) GRCh37: Chr5:88027701 GRCh38: Chr5:88731884	MEF2C	P171T, P93T, P217T, P219T, P237T, P77T	Intellectual disability, autosomal dominant 20	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210443337.	NM_002397.5(MEF2C):c.589+16G>T GRCh37: Chr5:88047658 GRCh38: Chr5:88751841	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 210043638.	NM_002397.5(MEF2C):c.511C>T (p.Pro171Ser) GRCh37: Chr5:88047752 GRCh38: Chr5:88751935	MEF2C	P169S, P189S, P29S, P45S, P123S, P171S	Intellectual disability, autosomal dominant 20	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209595039.	NM_002397.5(MEF2C):c.402+19del GRCh37: Chr5:88056983 GRCh38: Chr5:88761166	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 209261240.	NM_002397.5(MEF2C):c.259-17C>T GRCh37: Chr5:88057162 GRCh38: Chr5:88761345	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 209178541.	NM_002397.5(MEF2C):c.881del (p.Pro294fs) GRCh37: Chr5:88025118 GRCh38: Chr5:88729301	MEF2C	P246fs, P144fs, P168fs, P304fs, P294fs, P238fs, P284fs, P286fs	Intellectual disability, autosomal dominant 20	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 209019742.	NM_002397.5(MEF2C):c.940G>T (p.Ala314Ser) GRCh37: Chr5:88025059 GRCh38: Chr5:88729242	MEF2C	A314S, A324S, A258S, A304S, A188S, A266S, A164S, A306S	Intellectual disability, autosomal dominant 20	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 206439143.	NM_002397.5(MEF2C):c.54+13A>G GRCh37: Chr5:88119539 GRCh38: Chr5:88823722	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 204733244.	NM_002397.5(MEF2C):c.638-7T>C GRCh37: Chr5:88027725 GRCh38: Chr5:88731908	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 204370345.	NM_002397.5(MEF2C):c.258+3G>A GRCh37: Chr5:88100412 GRCh38: Chr5:88804595	MEF2C		Intellectual disability, autosomal dominant 20	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 204211446.	NM_002397.5(MEF2C):c.54+6T>C GRCh37: Chr5:88119546 GRCh38: Chr5:88823729	MEF2C		Intellectual disability, autosomal dominant 20	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 203484447.	NM_002397.5(MEF2C):c.1100+18T>C GRCh37: Chr5:88024292 GRCh38: Chr5:88728475	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 202996548.	NM_002397.5(MEF2C):c.638-14T>C GRCh37: Chr5:88027732 GRCh38: Chr5:88731915	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 202996449.	NM_002397.5(MEF2C):c.638-9del GRCh37: Chr5:88027727 GRCh38: Chr5:88731910	MEF2C		Intellectual disability, autosomal dominant 20	Benign (Sep 12, 2022)	criteria provided, single submitter
Select item 202881550.	NM_002397.5(MEF2C):c.1236G>A (p.Thr412=) GRCh37: Chr5:88018607 GRCh38: Chr5:88722790	MEF2C, MEF2C-AS2	A372T, A332T, A370T, A380T	Intellectual disability, autosomal dominant 20	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 202835751.	NM_002397.5(MEF2C):c.303C>G (p.Pro101=) GRCh37: Chr5:88057101 GRCh38: Chr5:88761284	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 202756352.	NM_002397.5(MEF2C):c.1366G>T (p.Glu456Ter) GRCh37: Chr5:88018477 GRCh38: Chr5:88722660	MEF2C, MEF2C-AS2	E376, E400, E434, E414, E446, E274, E330, E456, E298, E408, E416, E424, E448, E466	Intellectual disability, autosomal dominant 20	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 201853353.	NM_002397.5(MEF2C):c.988C>T (p.Leu330=) GRCh37: Chr5:88024422 GRCh38: Chr5:88728605	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 201693954.	NM_002397.5(MEF2C):c.1056G>A (p.Gln352=) GRCh37: Chr5:88024354 GRCh38: Chr5:88728537	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 201600055.	NM_002397.5(MEF2C):c.1301G>A (p.Ser434Asn) GRCh37: Chr5:88018542 GRCh38: Chr5:88722725	MEF2C, MEF2C-AS2	S252N, S412N, S424N, S378N, S394N, S402N, S426N, S434N, S308N, S354N, S276N, S386N, S392N, S444N	Intellectual disability, autosomal dominant 20	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 201340656.	NM_002397.5(MEF2C):c.306T>C (p.Asp102=) GRCh37: Chr5:88057098 GRCh38: Chr5:88761281	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 200734257.	NM_002397.5(MEF2C):c.999_1000del (p.Ser334fs) GRCh37: Chr5:88024410-88024411 GRCh38: Chr5:88728593-88728594	MEF2C	S344fs, S184fs, S208fs, S278fs, S324fs, S334fs, S286fs, S326fs	Intellectual disability, autosomal dominant 20	Pathogenic (Jun 15, 2022)	criteria provided, single submitter
Select item 200484358.	NM_002397.5(MEF2C):c.439A>G (p.Ile147Val) GRCh37: Chr5:88047824 GRCh38: Chr5:88752007	MEF2C	I147V, I21V, I99V, I5V, I145V, I165V	Intellectual disability, autosomal dominant 20	Benign (Oct 19, 2022)	criteria provided, single submitter
Select item 200335359.	NM_002397.5(MEF2C):c.541A>G (p.Ser181Gly) GRCh37: Chr5:88047722 GRCh38: Chr5:88751905	MEF2C	S179G, S199G, S39G, S133G, S181G, S55G	Intellectual disability, autosomal dominant 20	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200117060.	NM_002397.5(MEF2C):c.468del (p.Tyr157fs) GRCh37: Chr5:88047795 GRCh38: Chr5:88751978	MEF2C	Y155fs, Y15fs, Y109fs, Y175fs, Y157fs, Y31fs	Intellectual disability, autosomal dominant 20	Pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 200104361.	NM_002397.5(MEF2C):c.1302C>T (p.Ser434=) GRCh37: Chr5:88018541 GRCh38: Chr5:88722724	MEF2C, MEF2C-AS2		Intellectual disability, autosomal dominant 20	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 199771062.	NM_002397.5(MEF2C):c.91A>G (p.Lys31Glu) GRCh37: Chr5:88100582 GRCh38: Chr5:88804765	MEF2C	K31E	Intellectual disability, autosomal dominant 20	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 199519463.	NM_002397.5(MEF2C):c.637+1G>T GRCh37: Chr5:88044886 GRCh38: Chr5:88749069	MEF2C		Intellectual disability, autosomal dominant 20	Likely pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 199471564.	NM_002397.5(MEF2C):c.51A>G (p.Arg17=) GRCh37: Chr5:88119555 GRCh38: Chr5:88823738	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 199312065.	NM_002397.5(MEF2C):c.403-14T>G GRCh37: Chr5:88047874 GRCh38: Chr5:88752057	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 199249366.	NC_000005.10:g.88731902del GRCh37: Chr5:88027717 GRCh38: Chr5:88731900	MEF2C		Intellectual disability, autosomal dominant 20	Pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 197409867.	NM_002397.5(MEF2C):c.1005G>T (p.Gly335=) GRCh37: Chr5:88024405 GRCh38: Chr5:88728588	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 197009668.	NM_002397.5(MEF2C):c.855C>T (p.Ser285=) GRCh37: Chr5:88025144 GRCh38: Chr5:88729327	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 196435569.	NM_002397.5(MEF2C):c.750C>T (p.Asn250=) GRCh37: Chr5:88027606 GRCh38: Chr5:88731789	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 196350370.	NM_002397.5(MEF2C):c.595C>G (p.Leu199Val) GRCh37: Chr5:88044929 GRCh38: Chr5:88749112	MEF2C	L199V, L151V, L197V, L73V, L217V, L57V	Intellectual disability, autosomal dominant 20	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 195791671.	NM_002397.5(MEF2C):c.1341T>C (p.Ile447=) GRCh37: Chr5:88018502 GRCh38: Chr5:88722685	MEF2C, MEF2C-AS2		Intellectual disability, autosomal dominant 20	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 194349472.	NM_002397.5(MEF2C):c.1139T>A (p.Leu380His) GRCh37: Chr5:88018704 GRCh38: Chr5:88722887	MEF2C	L332H, L372H, L390H, L254H, L324H, L370H, L380H	Intellectual disability, autosomal dominant 20	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 192495373.	NM_002397.5(MEF2C):c.1353A>G (p.Arg451=) GRCh37: Chr5:88018490 GRCh38: Chr5:88722673	MEF2C, MEF2C-AS2		Intellectual disability, autosomal dominant 20	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 192403974.	NM_002397.5(MEF2C):c.590-4A>G GRCh37: Chr5:88044938 GRCh38: Chr5:88749121	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 192276675.	NM_002397.5(MEF2C):c.345C>G (p.Asp115Glu) GRCh37: Chr5:88057059 GRCh38: Chr5:88761242	MEF2C	D115E	Intellectual disability, autosomal dominant 20	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 192069776.	NM_002397.5(MEF2C):c.55-14T>C GRCh37: Chr5:88100632 GRCh38: Chr5:88804815	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 180585177.	NM_002397.5(MEF2C):c.258G>A (p.Glu86=) GRCh37: Chr5:88100415 GRCh38: Chr5:88804598	MEF2C		Intellectual disability, autosomal dominant 20	Likely pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 180573478.	NM_002397.5(MEF2C):c.939_940del (p.Ala314fs) GRCh37: Chr5:88025059-88025060 GRCh38: Chr5:88729242-88729243	MEF2C	A164fs, A188fs, A258fs, A266fs, A304fs, A306fs, A314fs, A324fs	Intellectual disability, autosomal dominant 20	Pathogenic (Jun 11, 2020)	criteria provided, single submitter
Select item 180513379.	NM_002397.5(MEF2C):c.908del (p.Leu303fs) GRCh37: Chr5:88025091 GRCh38: Chr5:88729274	MEF2C	L153fs, L177fs, L247fs, L255fs, L293fs, L295fs, L303fs, L313fs	Intellectual disability, autosomal dominant 20	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172058480.	NM_002397.5(MEF2C):c.746A>G (p.Asn249Ser) GRCh37: Chr5:88027610 GRCh38: Chr5:88731793	MEF2C	N107S, N123S, N201S, N247S, N249S, N267S	Intellectual disability, autosomal dominant 20	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 171882481.	NM_002397.5(MEF2C):c.53A>G (p.Gln18Arg) GRCh37: Chr5:88119553 GRCh38: Chr5:88823736	MEF2C	Q18R	Intellectual disability, autosomal dominant 20	Uncertain significance (Sep 4, 2022)	criteria provided, single submitter
Select item 171373182.	NM_002397.5(MEF2C):c.919G>C (p.Gly307Arg) GRCh37: Chr5:88025080 GRCh38: Chr5:88729263	MEF2C	G157R, G181R, G251R, G259R, G297R, G299R, G307R, G317R	Intellectual disability, autosomal dominant 20	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 171338883.	NM_002397.5(MEF2C):c.320T>C (p.Val107Ala) GRCh37: Chr5:88057084 GRCh38: Chr5:88761267	MEF2C	V107A	Intellectual disability, autosomal dominant 20	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 170771784.	NC_000005.9:g.(?_88625195)_(90796047_?)inv GRCh37: Chr5:88625195-90796047	ADGRV1, ARRDC3, CETN3, LUCAT1, LYSMD3, MBLAC2, MEF2C, POLR3G		Intellectual disability, autosomal dominant 20	Pathogenic	criteria provided, single submitter
Select item 170531285.	NM_002397.5(MEF2C):c.835-2A>G GRCh37: Chr5:88025166 GRCh38: Chr5:88729349	MEF2C		Intellectual disability, autosomal dominant 20	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170366186.	GRCh37/hg19 5q14.3(chr5:88065061-88406446) GRCh37: Chr5:88065061-88406446	MEF2C		Intellectual disability, autosomal dominant 20	Pathogenic	no assertion criteria provided
Select item 168594487.	NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro) GRCh37: Chr5:88119562 GRCh38: Chr5:88823745	MEF2C	R15P	Intellectual disability, autosomal dominant 20	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168537588.	NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro) GRCh37: Chr5:88100569 GRCh38: Chr5:88804752	MEF2C	L35P	Intellectual disability, autosomal dominant 20	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 167973389.	NM_002397.5(MEF2C):c.-142-25787T>G GRCh37: Chr5:88145534 GRCh38: Chr5:88849717	MEF2C		Intellectual disability, autosomal dominant 20	Uncertain significance (Jun 25, 2021)	criteria provided, single submitter
Select item 166177590.	NM_002397.5(MEF2C):c.936A>G (p.Pro312=) GRCh37: Chr5:88025063 GRCh38: Chr5:88729246	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 165520791.	NM_002397.5(MEF2C):c.258+14C>T GRCh37: Chr5:88100401 GRCh38: Chr5:88804584	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 165266892.	NM_002397.5(MEF2C):c.645G>T (p.Gly215=) GRCh37: Chr5:88027711 GRCh38: Chr5:88731894	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 164397993.	NM_002397.5(MEF2C):c.1218G>T (p.Ser406=) GRCh37: Chr5:88018625 GRCh38: Chr5:88722808	MEF2C-AS2, MEF2C	E326, E364, E366, E374	Intellectual disability, autosomal dominant 20	Likely benign (Sep 26, 2021)	criteria provided, single submitter
Select item 164069694.	NM_002397.5(MEF2C):c.258+13_258+14delinsAT GRCh37: Chr5:88100401-88100402 GRCh38: Chr5:88804584-88804585	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Mar 9, 2021)	criteria provided, single submitter
Select item 163696695.	NM_002397.5(MEF2C):c.1296C>T (p.Asp432=) GRCh37: Chr5:88018547 GRCh38: Chr5:88722730	MEF2C, MEF2C-AS2		Intellectual disability, autosomal dominant 20	Likely benign (Sep 18, 2021)	criteria provided, single submitter
Select item 163551296.	NM_002397.5(MEF2C):c.30G>A (p.Arg10=) GRCh37: Chr5:88119576 GRCh38: Chr5:88823759	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Jan 19, 2021)	criteria provided, single submitter
Select item 163175497.	NM_002397.5(MEF2C):c.54+13A>T GRCh37: Chr5:88119539 GRCh38: Chr5:88823722	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 163058298.	NM_002397.5(MEF2C):c.1014C>T (p.Thr338=) GRCh37: Chr5:88024396 GRCh38: Chr5:88728579	MEF2C		Intellectual disability, autosomal dominant 20	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 162791899.	NM_002397.5(MEF2C):c.1030C>T (p.Leu344Phe) GRCh37: Chr5:88024380 GRCh38: Chr5:88728563	MEF2C	L194F, L218F, L288F, L296F, L334F, L336F, L344F, L354F	Intellectual disability, autosomal dominant 20	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 1621424100.	NM_002397.5(MEF2C):c.1100+6C>G GRCh37: Chr5:88024304 GRCh38: Chr5:88728487	MEF2C		Intellectual disability, autosomal dominant 20	Benign (Sep 6, 2022)	criteria provided, single submitter

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