MAPKAPK5-AS1[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 147639	GRCh38/hg38 12q24.12(chr12:111724654-111867329)x3	ACAD10, ALDH2 +8 more	Copy number gain	See cases	GBenign
Select item 3123359	NM_003668.4(MAPKAPK5):c.10G>A (p.Glu4Lys)	MAPKAPK5, MAPKAPK5-AS1 (E4K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2294416	NM_003668.4(MAPKAPK5):c.17A>G (p.Asp6Gly)	MAPKAPK5, MAPKAPK5-AS1 (D6G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2339558	NM_003668.4(MAPKAPK5):c.31A>G (p.Ile11Val)	MAPKAPK5, MAPKAPK5-AS1 (I11V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

ClinVar