"Revvity Omics, Revvity"[submitter] AND "LOC126806422"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690299	NM_001267550.2(TTN):c.70615C>G (p.Leu23539Val)	LOC126806422, TTN +1 more (L14474V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 202827	NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)	LOC126806422, TTN +1 more (T21883A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 1200565	NM_001267550.2(TTN):c.70562C>G (p.Thr23521Arg)	LOC126806422, TTN +1 more (T14456R +5 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1325291	NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter)	LOC126806422, TTN +1 more (E14436* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 47286	NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)	LOC126806422, TTN +1 more (G23498S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 448814	NM_001267550.2(TTN):c.70485A>T (p.Lys23495Asn)	LOC126806422, TTN +1 more (K23495N +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 290351	NM_001267550.2(TTN):c.70424G>A (p.Arg23475His)	LOC126806422, TTN +1 more (R20907H +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 2437916	NM_001267550.2(TTN):c.70423C>T (p.Arg23475Cys)	LOC126806422, TTN +1 more (R14410C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196075	NM_001267550.2(TTN):c.70396C>T (p.Arg23466Cys)	LOC126806422, TTN +1 more (R23466C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2438347	NM_001267550.2(TTN):c.70371C>A (p.Asp23457Glu)	LOC126806422, TTN +1 more (D14392E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217906	NM_001267550.2(TTN):c.70328G>A (p.Arg23443Gln)	LOC126806422, TTN +1 more (R14378Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2438182	NM_001267550.2(TTN):c.70244T>C (p.Met23415Thr)	LOC126806422, TTN +1 more (M14350T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282288	NM_001267550.2(TTN):c.70231G>A (p.Gly23411Ser)	LOC126806422, TTN +1 more (G23411S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 47283	NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)	LOC126806422, TTN +1 more (T23394M +5 more)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 191906	NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr)	LOC126806422, TTN +1 more (I20823T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 502402	NM_001267550.2(TTN):c.70166C>G (p.Ala23389Gly)	LOC126806422, TTN +1 more (A20821G +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 202822	NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln)	LOC126806422, TTN +1 more (R21747Q +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 165860	NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)	LOC126806422, TTN +1 more (I20800V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 196082	NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)	LOC126806422, TTN +1 more (V23366A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2437475	NM_001267550.2(TTN):c.70091T>C (p.Ile23364Thr)	TTN-AS1, LOC126806422 +1 more (I14299T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437848	NM_001267550.2(TTN):c.70067T>C (p.Val23356Ala)	LOC126806422, TTN +1 more (V14291A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 535086	NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met)	LOC126806422, TTN +1 more (I23319M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 2437704	NM_001267550.2(TTN):c.69937A>G (p.Asn23313Asp)	LOC126806422, TTN +1 more (N14248D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438316	NM_001267550.2(TTN):c.69916C>A (p.Leu23306Ile)	LOC126806422, TTN +1 more (L14241I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500616	NM_001267550.2(TTN):c.69903C>T (p.Phe23301=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 47278	NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)	LOC126806422, TTN +1 more (F23301L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 165861	NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)	LOC126806422, TTN +1 more (I20720M +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 2438197	NM_001267550.2(TTN):c.69829G>A (p.Val23277Met)	LOC126806422, TTN +1 more (V14212M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 535498	NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser)	LOC126806422, TTN +1 more (I23272S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 2438394	NM_001267550.2(TTN):c.69808C>T (p.Leu23270Phe)	LOC126806422, TTN +1 more (L14205F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1739172	NM_001267550.2(TTN):c.69806G>A (p.Gly23269Glu)	LOC126806422, TTN +1 more (G14204E +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 191908	NM_001267550.2(TTN):c.69650A>C (p.Glu23217Ala)	LOC126806422, TTN +1 more (E20649A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 467422	NM_001267550.2(TTN):c.69638G>A (p.Arg23213His)	LOC126806422, TTN +1 more (R23213H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GUncertain significance
Select item 595927	NM_001267550.2(TTN):c.69568A>G (p.Ile23190Val)	LOC126806422, TTN +1 more (I20622V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 34