"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 202749	NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu)	LOC126806424, TTN +1 more (P18425L +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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 516824	NM_001267550.2(TTN):c.60138T>C (p.Tyr20046=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GLikely benign
Select item 626428	NM_001267550.2(TTN):c.60109G>T (p.Val20037Phe)	LOC126806424, TTN +1 more (V18396F +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 915565	NM_001267550.2(TTN):c.60099dup (p.Glu20034fs)	LOC126806424, TTN +1 more (E11094fs +5 more)	Duplication (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 47159	NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys)	TTN-AS1, LOC126806424 +1 more (E20019K +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 701463	NM_001267550.2(TTN):c.60027C>T (p.Ile20009=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
Select item 47157	NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)	LOC126806424, TTN +1 more (D20002G +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 47156	NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 626672	NM_001267550.2(TTN):c.59927-10C>A	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 574210	NM_001267550.2(TTN):c.59926+1G>A	LOC126806424, TTN +1 more	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +4 more	GPathogenic/Likely pathogenic
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 413217	NM_001267550.2(TTN):c.59859G>A (p.Ala19953=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GLikely benign
Select item 626673	NM_001267550.2(TTN):c.59836_59837delinsAG (p.Gln19946Arg)	LOC126806424, TTN +1 more (Q11006R +4 more)	Indel (missense variant)	Cardiomyopathy	GUncertain significance
Select item 47154	NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn)	LOC126806424, TTN +1 more (D19903N +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
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 1329168	NM_001267550.2(TTN):c.59533C>T (p.Arg19845Cys)	LOC126806424, TTN +1 more (R10780C +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2691090	NM_001267550.2(TTN):c.59484A>G (p.Pro19828=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 137799	NM_001267550.2(TTN):c.59344+3G>A	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 47150	NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 195845	NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21