ClinVar for MedGen (Select 1627492) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1279579	NM_016653.3(MAP3K20):c.1360-28A>G	MAP3K20, MAP3K20-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1269021	NM_016653.3(MAP3K20):c.1032+39G>A	MAP3K20, MAP3K20-AS1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 6, with fiber-type disproportion +2 more	GBenign
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 1263549	NM_016653.3(MAP3K20):c.445-37A>G	MAP3K20	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 6, with fiber-type disproportion +2 more	GBenign
Select item 1229230	NM_016653.3(MAP3K20):c.1360-14_1360-9del	MAP3K20, MAP3K20-AS1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1178388	NM_016653.3(MAP3K20):c.670-11G>C	MAP3K20, MAP3K20-AS1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 6, with fiber-type disproportion +2 more	GBenign
Select item 446160	NM_016653.3(MAP3K20):c.282dup (p.Asn95Ter)	MAP3K20 (N95*)	Duplication (nonsense)	Myopathy, centronuclear, 6, with fiber-type disproportion	GPathogenic
Select item 446159	NM_016653.3(MAP3K20):c.515G>A (p.Trp172Ter)	MAP3K20 (W172*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 446158	NM_016653.3(MAP3K20):c.490_491del (p.Met164fs)	MAP3K20 (M164fs)	Deletion (frameshift variant)	Centronuclear myopathy	GPathogenic