"Revvity Omics, Revvity"[submitter] AND "LOC126806428"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438009	NM_001267550.2(TTN):c.21416T>A (p.Phe7139Tyr)	LOC126806428, TTN (F5895Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437414	NM_001267550.2(TTN):c.21410C>T (p.Pro7137Leu)	LOC126806428, TTN (P5893L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437994	NM_001267550.2(TTN):c.21383G>A (p.Arg7128His)	LOC126806428, TTN (R5884H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 46683	NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)	LOC126806428, TTN (A7122T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 203295	NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)	LOC126806428, TTN (M6794T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 595429	NM_001267550.2(TTN):c.21292G>A (p.Val7098Ile)	LOC126806428, TTN (V7098I +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 203294	NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)	LOC126806428, TTN (K6749R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GConflicting classifications of pathogenicity
Select item 2438392	NM_001267550.2(TTN):c.21189G>A (p.Leu7063=)	LOC126806428, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 535437	NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln)	LOC126806428, TTN (R7048Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 535615	NM_001267550.2(TTN):c.21119G>A (p.Arg7040Gln)	LOC126806428, TTN (R7040Q +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1696005	NM_001267550.2(TTN):c.21107A>T (p.Asp7036Val)	LOC126806428, TTN (D5792V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2437597	NM_001267550.2(TTN):c.21058T>C (p.Phe7020Leu)	LOC126806428, TTN (F5776L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438285	NM_001267550.2(TTN):c.21052T>C (p.Tyr7018His)	LOC126806428, TTN (Y5774H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 668699	NM_001267550.2(TTN):c.21036G>T (p.Arg7012Ser)	LOC126806428, TTN (R5768S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2437945	NM_001267550.2(TTN):c.21020T>C (p.Ile7007Thr)	LOC126806428, TTN (I5763T +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related disorder +2 more	GUncertain significance
Select item 203293	NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)	LOC126806428, TTN (K6684R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 668181	NM_001267550.2(TTN):c.20999A>G (p.Asn7000Ser)	LOC126806428, TTN (N7000S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2437915	NM_001267550.2(TTN):c.20973C>G (p.Ser6991Arg)	LOC126806428, TTN (S6991R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 202354	NM_001267550.2(TTN):c.20924C>T (p.Pro6975Leu)	LOC126806428, TTN (P5731L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2437773	NM_001267550.2(TTN):c.20896A>G (p.Thr6966Ala)	LOC126806428, TTN (T5722A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438237	NM_001267550.2(TTN):c.20893T>C (p.Cys6965Arg)	LOC126806428, TTN (C5721R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 21