ClinVar for MedGen (Select 1761918) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804005	NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)	MAPK1 (Y316H)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GLikely pathogenic
Select item 1699351	NM_002745.5(MAPK1):c.155C>A (p.Ala52Asp)	MAPK1 (A52D)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GUncertain significance
Select item 1299571	NM_002745.5(MAPK1):c.763A>G (p.Ile255Val)	MAPK1 (I255V)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GLikely pathogenic
Select item 917746	NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)	MAPK1 (D318G)	Single nucleotide variant (missense variant)	Specific learning disability +5 more	GPathogenic
Select item 917745	NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)	MAPK1 (D318N)	Single nucleotide variant (missense variant)	Specific learning disability +4 more	GPathogenic
Select item 917744	NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)	MAPK1 (A174V)	Single nucleotide variant (missense variant)	Macrocephaly +5 more	GPathogenic
Select item 917742	NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)	MAPK1 (I74N)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic

ClinVar