"PreventionGenetics, part of Exact Sciences"[submitter] AND "MAP3K20-A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059052	NM_016653.3(MAP3K20):c.987+3977G>A	MAP3K20, MAP3K20-AS1	Single nucleotide variant (synonymous variant +1 more)	MAP3K20-related disorder	GLikely benign
Select item 3034647	NM_016653.3(MAP3K20):c.987+4224GAT[6]	MAP3K20, MAP3K20-AS1	Microsatellite (inframe insertion +1 more)	MAP3K20-related disorder	GLikely benign
Select item 1651931	NM_016653.3(MAP3K20):c.1204-6T>C	MAP3K20, MAP3K20-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 734728	NM_016653.3(MAP3K20):c.1346G>A (p.Gly449Glu)	MAP3K20, MAP3K20-AS1 (G449E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1268264	NM_016653.3(MAP3K20):c.1592C>T (p.Ser531Leu)	MAP3K20, MAP3K20-AS1 (S531L)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 6, with fiber-type disproportion +3 more	GBenign
Select item 726848	NM_016653.3(MAP3K20):c.2047C>T (p.Arg683Cys)	MAP3K20, MAP3K20-AS1 (R683C)	Single nucleotide variant (missense variant)	MAP3K20-related disorder +1 more	GBenign

ClinVar