"Ambry Genetics"[submitter] AND "MEF2C"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2559408	NM_002397.5(MEF2C):c.1235C>T (p.Thr412Met)	MEF2C, MEF2C-AS2 (T254M +13 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 206128	NM_002397.5(MEF2C):c.1029C>G (p.His343Gln)	MEF2C (H333Q +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1498228	NM_002397.5(MEF2C):c.1015G>A (p.Ala339Thr)	MEF2C (A329T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 206127	NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr)	MEF2C (S317T +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1765276	NM_002397.5(MEF2C):c.896C>T (p.Ala299Val)	MEF2C (A309V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 354584	NM_002397.5(MEF2C):c.861G>A (p.Ser287=)	MEF2C	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 698438	NM_002397.5(MEF2C):c.822C>T (p.Val274=)	MEF2C	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 20 +1 more	GLikely benign
Select item 589526	NM_002397.5(MEF2C):c.800T>C (p.Met267Thr)	MEF2C (M265T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 511539	NM_002397.5(MEF2C):c.780A>G (p.Pro260=)	MEF2C	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 138203	NM_002397.5(MEF2C):c.642C>T (p.Asn214=)	MEF2C	Single nucleotide variant (synonymous variant)	MEF2C-related disorder +3 more	GBenign/Likely benign
Select item 488545	NM_002397.5(MEF2C):c.638-2A>C	MEF2C	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 20 +1 more	GPathogenic
Select item 1749223	NM_002397.5(MEF2C):c.570T>A (p.Pro190=)	MEF2C	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 158886	NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)	MEF2C (R187* +5 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1748191	NM_002397.5(MEF2C):c.553G>A (p.Gly185Ser)	MEF2C (G59S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283905	NM_002397.5(MEF2C):c.430C>A (p.Pro144Thr)	MEF2C (P96T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589844	NM_002397.5(MEF2C):c.401_402+2del	MEF2C	Microsatellite (splice donor variant +1 more)	Intellectual disability, autosomal dominant 20 +1 more	GPathogenic/Likely pathogenic
Select item 138202	NM_002397.5(MEF2C):c.312C>T (p.Asp104=)	MEF2C	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1145008	NM_002397.5(MEF2C):c.309G>A (p.Ala103=)	MEF2C	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal dominant 20 +1 more	GLikely benign
Select item 380275	NM_002397.5(MEF2C):c.308C>T (p.Ala103Val)	MEF2C (A103V)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 20 +2 more	GConflicting classifications of pathogenicity
Select item 590110	NM_002397.5(MEF2C):c.300C>T (p.Asp100=)	MEF2C	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 588650	NM_002397.5(MEF2C):c.261G>T (p.Thr87=)	MEF2C	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 521560	NM_002397.5(MEF2C):c.214del (p.Tyr72fs)	MEF2C (Y72fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2317249	NM_002397.5(MEF2C):c.204_208del (p.Lys68fs)	MEF2C (K68fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 487206	NM_002397.5(MEF2C):c.180C>T (p.Thr60=)	MEF2C	Single nucleotide variant (synonymous variant)	MEF2C-related disorder +4 more	GBenign/Likely benign
Select item 520573	NM_002397.5(MEF2C):c.123_124del (p.Cys41_Glu42delinsTer)	MEF2C	Microsatellite (nonsense)	Inborn genetic diseases	GPathogenic
Select item 520592	NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro)	MEF2C (L38P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 1593616	NM_002397.5(MEF2C):c.111G>A (p.Val37=)	MEF2C	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2606617	NM_002397.5(MEF2C):c.64_77del (p.Thr22fs)	MEF2C (T22fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 521174	NM_002397.5(MEF2C):c.58A>T (p.Thr20Ser)	MEF2C (T20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 620015	NM_002397.5(MEF2C):c.44G>A (p.Arg15His)	MEF2C (R15H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1000694	NM_002397.5(MEF2C):c.34A>G (p.Met12Val)	MEF2C (M12V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1776156	NM_002397.5(MEF2C):c.15G>T (p.Lys5Asn)	MEF2C (K5N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1272071	NM_002397.5(MEF2C):c.-26C>T	MEF2C	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, autosomal dominant 20 +2 more	GPathogenic

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Items: 34