MEF2D[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149564	GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1	BCAN, BCAN-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 2229129	NM_005920.4(MEF2D):c.1471G>A (p.Gly491Arg)	MEF2D (G484R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320674	NM_005920.4(MEF2D):c.1459C>T (p.Arg487Trp)	MEF2D (R480W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341269	NM_005920.4(MEF2D):c.1423G>A (p.Gly475Arg)	MEF2D (G468R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184410	NM_005920.4(MEF2D):c.1235_1236del (p.Leu412fs)	MEF2D (L405fs +1 more)	Microsatellite (frameshift variant)	See cases	GUncertain significance
Select item 2456570	NM_005920.4(MEF2D):c.988C>T (p.Pro330Ser)	MEF2D (P323S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252430	NM_005920.4(MEF2D):c.794G>T (p.Ser265Ile)	MEF2D (S265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125107	NM_005920.4(MEF2D):c.761C>T (p.Pro254Leu)	MEF2D (P254L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605461	NM_005920.4(MEF2D):c.721A>G (p.Asn241Asp)	MEF2D (N241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125106	NM_005920.4(MEF2D):c.691T>G (p.Ser231Ala)	MEF2D (S231A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555066	NM_005920.4(MEF2D):c.676G>C (p.Val226Leu)	MEF2D (V226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629869	NM_005920.4(MEF2D):c.598G>C (p.Ala200Pro)	MEF2D (A200P)	Single nucleotide variant (missense variant)	MEF2D-related condition	GUncertain significance
Select item 2517114	NM_005920.4(MEF2D):c.549G>C (p.Gln183His)	MEF2D (Q183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 871958	NM_005920.4(MEF2D):c.71G>A (p.Arg24Gln)	MEF2D (R24Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	CRABP2, DAP3 +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ARHGEF2, ARNT +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 685546	GRCh37/hg19 1q22(chr1:156037369-156463980)x3	BGLAP, CCT3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 617477	LMNA-NTRK1 fusion	BCAN, BGLAP +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565185	GRCh37/hg19 1q22-23.1(chr1:156408917-156534664)x1	IQGAP3, MEF2D	Copy number loss	not provided	GUncertain significance
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 34