"Revvity Omics, Revvity"[submitter] AND "LOC126806433"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 467471	NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu)	LOC126806433, TTN (R2490L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 192071	NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys)	LOC126806433, TTN (R2490C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2690342	NM_001267550.2(TTN):c.7459C>T (p.Pro2487Ser)	LOC126806433, TTN (P2441S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256068	NM_001267550.2(TTN):c.7459C>A (p.Pro2487Thr)	LOC126806433, TTN (P2441T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690354	NM_001267550.2(TTN):c.7417G>A (p.Val2473Met)	LOC126806433, TTN (V2427M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 404946	NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)	LOC126806433, TTN (V2447M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 203152	NM_001267550.2(TTN):c.7316G>A (p.Arg2439His)	LOC126806433, TTN (R2439H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 497808	NM_001267550.2(TTN):c.7315C>T (p.Arg2439Cys)	LOC126806433, TTN (R2439C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437539	NM_001267550.2(TTN):c.7226C>A (p.Ser2409Tyr)	LOC126806433, TTN (S2363Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 626699	NM_001267550.2(TTN):c.7223A>G (p.Gln2408Arg)	LOC126806433, TTN (Q2408R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2438174	NM_001267550.2(TTN):c.7214T>C (p.Ile2405Thr)	LOC126806433, TTN (I2359T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502445	NM_001267550.2(TTN):c.7180G>C (p.Glu2394Gln)	LOC126806433, TTN (E2394Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437477	NM_001267550.2(TTN):c.7166T>A (p.Met2389Lys)	LOC126806433, TTN (M2343K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 499646	NM_001267550.2(TTN):c.7159G>A (p.Val2387Ile)	LOC126806433, TTN (V2387I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178270	NM_001267550.2(TTN):c.7157G>A (p.Gly2386Asp)	LOC126806433, TTN (G2386D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2437803	NM_001267550.2(TTN):c.7150G>A (p.Val2384Met)	LOC126806433, TTN (V2338M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438274	NM_001267550.2(TTN):c.7124T>C (p.Leu2375Pro)	LOC126806433, TTN (L2329P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 166310	NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)	LOC126806433, TTN (R2354C +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 467428	NM_001267550.2(TTN):c.7023C>T (p.Asp2341=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 1194320	NM_001267550.2(TTN):c.6971C>T (p.Thr2324Met)	LOC126806433, TTN (T2278M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 191143	NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)	LOC126806433, TTN (R2320H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 467418	NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)	LOC126806433, TTN (R2317H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 229520	NM_001267550.2(TTN):c.6949C>T (p.Arg2317Cys)	LOC126806433, TTN (R2317C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1215513	NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr)	LOC126806433, TTN (S2262Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 2438304	NM_001267550.2(TTN):c.6885A>G (p.Ile2295Met)	LOC126806433, TTN (I2249M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 535605	NM_001267550.2(TTN):c.6845A>C (p.Tyr2282Ser)	LOC126806433, TTN (Y2282S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 535337	NM_001267550.2(TTN):c.6835C>G (p.Pro2279Ala)	LOC126806433, TTN (P2279A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 504376	NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)	LOC126806433, TTN (Q2274* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 264475	NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)	LOC126806433, TTN (Q2228E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity

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Items: 29