"Revvity Omics, Revvity"[submitter] AND "LOC126806427"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690300	NM_001267550.2(TTN):c.45616+4A>G	LOC126806427, TTN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 519118	NM_001267550.2(TTN):c.45598G>A (p.Ala15200Thr)	LOC126806427, TTN (A15200T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1196643	NM_001267550.2(TTN):c.45586G>A (p.Ala15196Thr)	LOC126806427, TTN (A12628T +5 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 404677	NM_001267550.2(TTN):c.45505G>A (p.Ala15169Thr)	LOC126806427, TTN (A15169T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2438266	NM_001267550.2(TTN):c.45470A>G (p.Lys15157Arg)	LOC126806427, TTN (K12589R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437434	NM_001267550.2(TTN):c.45311T>C (p.Leu15104Pro)	LOC126806427, TTN (L12536P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593239	NM_001267550.2(TTN):c.45288T>A (p.Asp15096Glu)	LOC126806427, TTN (D12528E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 46984	NM_001267550.2(TTN):c.45268C>A (p.Gln15090Lys)	LOC126806427, TTN (Q15090K +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 191959	NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp)	LOC126806427, TTN (R12515W +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 2438373	NM_001267550.2(TTN):c.45245G>A (p.Gly15082Glu)	LOC126806427, TTN (G12514E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 191960	NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn)	LOC126806427, TTN (D12499N +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 518690	NM_001267550.2(TTN):c.45185T>C (p.Ile15062Thr)	LOC126806427, TTN (I15062T +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 404843	NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn)	LOC126806427, TTN (S15043N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 202444	NM_133378.4(TTN):c.37385_37387delAAG	LOC126806427, TTN	Microsatellite (splice acceptor variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 332863	NM_001267550.2(TTN):c.45054G>A (p.Ala15018=)	LOC126806427, TTN	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 283623	NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro)	LOC126806427, TTN (L15005P +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 178212	NM_001267550.2(TTN):c.45001A>C (p.Asn15001His)	LOC126806427, TTN (N12433H +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 238783	NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)	LOC126806427, TTN (R14996H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 192166	NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)	LOC126806427, TTN (G12425E +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 2438066	NM_001267550.2(TTN):c.44965A>G (p.Ile14989Val)	LOC126806427, TTN (I12421V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 20