"OMIM"[submitter] AND "MAPKAPK5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1686938	NM_003668.4(MAPKAPK5):c.207_208dup (p.Ala70fs)	MAPKAPK5 (A70fs)	Microsatellite (frameshift variant +1 more)	Neurocardiofaciodigital syndrome	GPathogenic
Select item 2502378	NM_003668.4(MAPKAPK5):c.320G>T (p.Gly107Val)	MAPKAPK5 (G107V +1 more)	Single nucleotide variant (missense variant +1 more)	Neurocardiofaciodigital syndrome	GPathogenic
Select item 2502376	NM_003668.4(MAPKAPK5):c.671del (p.Leu224fs)	MAPKAPK5 (L125fs +5 more)	Deletion (frameshift variant)	Neurocardiofaciodigital syndrome	GPathogenic
Select item 1686939	NM_003668.4(MAPKAPK5):c.1077dup (p.Leu360fs)	MAPKAPK5 (L261fs +5 more)	Duplication (frameshift variant)	Neurocardiofaciodigital syndrome	GPathogenic
Select item 2502375	NM_003668.4(MAPKAPK5):c.1180C>T (p.Arg394Ter)	MAPKAPK5 (R394* +5 more)	Single nucleotide variant (nonsense)	Neurocardiofaciodigital syndrome	GPathogenic
Select item 2502377	NM_003668.4(MAPKAPK5):c.1303C>T (p.Gln435Ter)	MAPKAPK5 (Q437* +8 more)	Single nucleotide variant (nonsense)	Neurocardiofaciodigital syndrome	GPathogenic

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