"PreventionGenetics, part of Exact Sciences"[submitter] AND "MEF2A"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041576	NM_001319206.4(MEF2A):c.611-8G>A	MEF2A	Single nucleotide variant (intron variant)	MEF2A-related disorder	GBenign
Select item 3058865	NM_001319206.4(MEF2A):c.885T>C (p.Asn295=)	MEF2A	Single nucleotide variant (synonymous variant +1 more)	MEF2A-related disorder	GBenign
Select item 3059607	NM_001319206.4(MEF2A):c.891G>A (p.Gln297=)	MEF2A	Single nucleotide variant (synonymous variant +1 more)	MEF2A-related disorder	GBenign
Select item 3043823	NM_001319206.4(MEF2A):c.1137T>C (p.Val379=)	MEF2A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3056101	NM_001319206.4(MEF2A):c.1245G>A (p.Ser415=)	MEF2A	Single nucleotide variant (synonymous variant)	MEF2A-related disorder	GBenign
Select item 3039553	NM_001319206.4(MEF2A):c.1253AGC[6] (p.Gln424_Gln428del)	MEF2A	Microsatellite (inframe deletion)	MEF2A-related disorder	GBenign
Select item 403080	NM_001319206.4(MEF2A):c.1253AGC[9] (p.Gln427_Gln428del)	MEF2A	Microsatellite (inframe_deletion)	not specified +1 more	GBenign
Select item 3044407	NM_001319206.4(MEF2A):c.1286C>A (p.Pro429Gln)	MEF2A (P153Q +13 more)	Single nucleotide variant (missense variant)	MEF2A-related disorder	GLikely benign
Select item 3059085	NM_001319206.4(MEF2A):c.1347G>T (p.Gly449=)	MEF2A	Single nucleotide variant (synonymous variant)	MEF2A-related disorder	GBenign
Select item 3056661	NM_001319206.4(MEF2A):c.1434A>G (p.Pro478=)	MEF2A	Single nucleotide variant (synonymous variant)	MEF2A-related disorder	GBenign