ClinVar (all) for Orgtrack (Select 509592) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338271	NC_000005.10:g.(?_70951941)_(70951991_?)del	SMN1	Deletion	Spinal muscular atrophy	GPathogenic
Select item 3253648	NM_001039469.3(MARK2):c.757C>T (p.Gln253Ter)	MARK2 (Q220* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GPathogenic
Select item 3253647	NM_001039469.3(MARK2):c.403G>A (p.Gly135Arg)	MARK2 (G102R +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253646	NM_001039469.3(MARK2):c.337+1G>T	MARK2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GPathogenic
Select item 3253645	NM_001039469.3(MARK2):c.288dup (p.Leu97fs)	MARK2 (L64fs +1 more)	Duplication (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 3253644	NM_001039469.3(MARK2):c.258_259dup (p.Thr87fs)	MARK2 (T54fs +1 more)	Duplication (frameshift variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253643	NM_001039469.3(MARK2):c.239C>T (p.Ala80Val)	MARK2 (A47V +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253642	NM_001039469.3(MARK2):c.2291G>C (p.Arg764Pro)	MARK2 (R685P +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253641	NM_001039469.3(MARK2):c.2255T>C (p.Val752Ala)	MARK2 (V673A +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253640	NM_001039469.3(MARK2):c.2239C>T (p.Gln747Ter)	MARK2 (Q668* +4 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GPathogenic
Select item 3253639	NM_001039469.3(MARK2):c.2168_2169del (p.Cys723fs)	MARK2 (C644fs +4 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 3253638	NM_001039469.3(MARK2):c.1990C>T (p.Arg664Ter)	MARK2 (R600* +2 more)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GLikely pathogenic
Select item 3253637	NM_001039469.3(MARK2):c.1939_1940del (p.Leu647fs)	MARK2 (L593fs +1 more)	Deletion (frameshift variant +1 more)	Autism spectrum disorder	GLikely pathogenic
Select item 3253636	NM_001039469.3(MARK2):c.1934+1G>A	MARK2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253635	NM_001039469.3(MARK2):c.1888dup (p.Ala630fs)	MARK2 (A575fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3253634	NM_001039469.3(MARK2):c.1769del (p.Gly590fs)	MARK2 (G535fs +3 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 3253633	NM_001039469.3(MARK2):c.235-2A>G	MARK2	Single nucleotide variant (splice acceptor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253632	NM_001039469.3(MARK2):c.1750C>T (p.Arg584Ter)	MARK2 (R529* +3 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GPathogenic
Select item 3253631	NM_001039469.3(MARK2):c.1516dup (p.Leu506fs)	MARK2 (L472fs +1 more)	Duplication (frameshift variant +1 more)	Autism spectrum disorder	GLikely pathogenic
Select item 3253630	NM_001039469.3(MARK2):c.1514+2T>G	MARK2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253629	NM_001039469.3(MARK2):c.1181dup (p.Val395fs)	MARK2 (V362fs +1 more)	Duplication (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 3253628	NM_001039469.3(MARK2):c.1101+1G>A	MARK2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GPathogenic
Select item 3253627	NM_001039469.3(MARK2):c.989-1G>A	MARK2	Single nucleotide variant (splice acceptor variant)	Autism spectrum disorder	GPathogenic
Select item 3253626	NM_001039469.3(MARK2):c.905G>A (p.Arg302Gln)	MARK2 (R269Q +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 3253625	NM_001039469.3(MARK2):c.812del (p.Phe271fs)	MARK2 (F238fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 3253624	NM_001039469.3(MARK2):c.211C>T (p.Arg71Ter)	MARK2 (R38* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GLikely pathogenic
Select item 982302	NM_001039469.3(MARK2):c.581T>C (p.Phe194Ser)	MARK2 (F161S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982301	NM_001039469.3(MARK2):c.904C>T (p.Arg302Ter)	MARK2 (R269* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 548011	NM_001039469.3(MARK2):c.1120del (p.Thr374fs)	MARK2 (T341fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance

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Items: 29