"Revvity Omics, Revvity"[submitter] AND "LOC126806424"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288958	NM_001267550.2(TTN):c.60175G>T (p.Gly20059Cys)	LOC126806424, TTN +1 more (G20059C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 202748	NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)	LOC126806424, TTN +1 more (R18408H +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 202747	NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys)	LOC126806424, TTN +1 more (R18406K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GUncertain significance
Select item 2438022	NM_001267550.2(TTN):c.60137A>G (p.Tyr20046Cys)	LOC126806424, TTN +1 more (Y10981C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 467332	NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del)	LOC126806424, TTN +1 more (Q20042del +5 more)	Microsatellite (inframe_deletion)	not specified +3 more	GUncertain significance
Select item 535292	NM_001267550.2(TTN):c.60097T>G (p.Leu20033Val)	LOC126806424, TTN +1 more (L20033V +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 515782	NM_001267550.2(TTN):c.60025A>G (p.Ile20009Val)	LOC126806424, TTN +1 more (I18368V +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 263757	NM_001267550.2(TTN):c.60008G>A (p.Arg20003His)	LOC126806424, TTN +1 more (R17435H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 165933	NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)	LOC126806424, TTN +1 more (H17408Y +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 332822	NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val)	LOC126806424, TTN +1 more (A19971V +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +10 more	GUncertain significance
Select item 2437819	NM_001267550.2(TTN):c.59907C>G (p.Ile19969Met)	LOC126806424, TTN +1 more (I10904M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 592799	NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys)	LOC126806424, TTN +1 more (R17391C +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 404879	NM_001267550.2(TTN):c.59827G>A (p.Glu19943Lys)	LOC126806424, TTN +1 more (E19943K +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 535399	NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val)	LOC126806424, TTN +1 more (A19938V +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 178203	NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)	LOC126806424, TTN +1 more (T17342I +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 404897	NM_001267550.2(TTN):c.59725A>G (p.Ile19909Val)	TTN-AS1, LOC126806424 +1 more (I19909V +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1729361	NM_001267550.2(TTN):c.59684A>G (p.Tyr19895Cys)	TTN-AS1, LOC126806424 +1 more (Y10830C +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 202743	NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)	LOC126806424, TTN +1 more (V18245G +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2437637	NM_001267550.2(TTN):c.59615T>C (p.Val19872Ala)	LOC126806424, TTN +1 more (V10807A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515667	NM_001267550.2(TTN):c.59534G>A (p.Arg19845His)	LOC126806424, TTN +1 more (R18204H +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 2437409	NM_001267550.2(TTN):c.59477A>G (p.Asp19826Gly)	LOC126806424, TTN +1 more (D10761G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438350	NM_001267550.2(TTN):c.59472C>G (p.Asp19824Glu)	TTN-AS1, LOC126806424 +1 more (D10759E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437744	NM_001267550.2(TTN):c.59466AGA[1] (p.Glu19823del)	LOC126806424, TTN +1 more (E10758del +5 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 682337	NM_001267550.2(TTN):c.59442A>G (p.Pro19814=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 238813	NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)	LOC126806424, TTN +1 more (G19801D +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 195917	NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu)	LOC126806424, TTN +1 more (I19787L +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 195845	NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity

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Items: 27