"Genetic Services Laboratory, University of Chicago"[submitter] AND "M - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443171	NM_014994.3(MAPKBP1):c.1013A>G (p.Tyr338Cys)	MAPKBP1 (Y338C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 733747	NM_014994.3(MAPKBP1):c.1420G>A (p.Val474Met)	MAPKBP1 (V480M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2168373	NM_014994.3(MAPKBP1):c.2391_2392delinsTT (p.Pro798Ser)	MAPKBP1 (P804S +1 more)	Indel (missense variant +1 more)	not provided	GLikely benign
Select item 2443169	NM_014994.3(MAPKBP1):c.2481+10C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1336589	NM_014994.3(MAPKBP1):c.2519C>A (p.Ala840Glu)	MAPKBP1 (A840E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 716220	NM_014994.3(MAPKBP1):c.2859G>A (p.Pro953=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 733613	NM_014994.3(MAPKBP1):c.3339C>T (p.Ser1113=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2443170	NM_014994.3(MAPKBP1):c.3393G>A (p.Pro1131=)	MAPKBP1	Single nucleotide variant (synonymous variant +2 more)	MAPKBP1-related disorder +1 more	GBenign/Likely benign

ClinVar