"GeneDx"[submitter] AND "MARK2"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378054	NM_001039469.3(MARK2):c.370del (p.Thr124fs)	MARK2 (T124fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3378113	NM_001039469.3(MARK2):c.433G>A (p.Gly145Ser)	MARK2 (G112S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378080	NM_001039469.3(MARK2):c.530_531del (p.Lys177fs)	MARK2 (K144fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3378061	NM_001039469.3(MARK2):c.746C>A (p.Pro249His)	MARK2 (P216H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378089	NM_001039469.3(MARK2):c.1027del (p.Gln343fs)	MARK2 (Q310fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3378099	NM_001039469.3(MARK2):c.1036dup (p.Leu346fs)	MARK2 (L313fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3378059	NM_001039469.3(MARK2):c.1180A>T (p.Lys394Ter)	MARK2 (K361* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3378102	NM_001039469.3(MARK2):c.1260dup (p.Asn421Ter)	MARK2 (N387* +2 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 3378069	NM_001039469.3(MARK2):c.1417-2A>G	MARK2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3378104	NM_001039469.3(MARK2):c.1644dup (p.Thr549fs)	MARK2 (T515fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3378084	NM_001039469.3(MARK2):c.1659_1660del (p.Cys553_Glu554delinsTer)	MARK2	Microsatellite (nonsense +1 more)	not provided	GUncertain significance
Select item 3378055	NM_001039469.3(MARK2):c.1765dup (p.Arg589fs)	MARK2 (R534fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3378091	NM_001039469.3(MARK2):c.1773_1774del (p.Ser592fs)	MARK2 (S537fs +3 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3378100	NM_001039469.3(MARK2):c.1801C>T (p.Gln601Ter)	MARK2 (Q546* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3378106	NM_001039469.3(MARK2):c.1807C>T (p.Arg603Ter)	MARK2 (R548* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3253635	NM_001039469.3(MARK2):c.1888dup (p.Ala630fs)	MARK2 (A575fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3378105	NM_001039469.3(MARK2):c.2081G>T (p.Arg694Leu)	MARK2 (R615L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance