Related gene-specific medical variations for Gene (Select 613266) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121927	NM_001351661.2(MACROD2):c.865G>A (p.Gly289Ser)	LOC613266, MACROD2 (G54S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3057099	NM_001351661.2(MACROD2):c.940G>A (p.Gly314Ser)	LOC613266, MACROD2 (G314S +1 more)	Single nucleotide variant (missense variant)	MACROD2-related disorder	GBenign
Select item 2494268	NM_001351661.2(MACROD2):c.835G>T (p.Ala279Ser)	LOC613266, MACROD2 (A279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264561	NM_001351661.2(MACROD2):c.850A>G (p.Thr284Ala)	LOC613266, MACROD2 (T49A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 734279	NM_001351661.2(MACROD2):c.783C>T (p.Asn261=)	LOC613266, MACROD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218829	NM_001351661.2(MACROD2):c.805G>A (p.Val269Met)	LOC613266, MACROD2 (V269M +1 more)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity

ClinVar