"Revvity Omics, Revvity"[submitter] AND "LOC126806431"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438157	NM_001267550.2(TTN):c.17660_17664del (p.Lys5887fs)	LOC126806431, TTN (K4643fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 594525	NM_001267550.2(TTN):c.17636T>A (p.Ile5879Lys)	LOC126806431, TTN (I4635K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437743	NM_001267550.2(TTN):c.17614A>G (p.Ser5872Gly)	LOC126806431, TTN (S4628G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 499625	NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys)	LOC126806431, TTN (G4622C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 179918	NM_001267550.2(TTN):c.17500G>A (p.Val5834Ile)	LOC126806431, TTN (V4590I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2438070	NM_001267550.2(TTN):c.17494A>G (p.Ile5832Val)	LOC126806431, TTN (I4588V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068927	NM_001267550.2(TTN):c.17461+1G>A	LOC126806431, TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1284392	NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser)	LOC126806431, TTN (C4569S +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related disorder +8 more	GUncertain significance
Select item 2438425	NM_001267550.2(TTN):c.17435G>T (p.Arg5812Ile)	LOC126806431, TTN (R4568I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 535558	NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met)	LOC126806431, TTN (I5776M +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 466850	NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)	LOC126806431, TTN	Single nucleotide variant (synonymous variant +1 more)	TTN-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 2437619	NM_001267550.2(TTN):c.17303A>G (p.Asp5768Gly)	LOC126806431, TTN (D4524G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 404814	NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met)	LOC126806431, TTN (T5760M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 2438303	NM_001267550.2(TTN):c.17237C>G (p.Thr5746Arg)	LOC126806431, TTN (T4502R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437711	NM_001267550.2(TTN):c.17230G>A (p.Gly5744Arg)	LOC126806431, TTN (G4500R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 212461	NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)	LOC126806431, TTN (R4499W +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 46625	NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)	LOC126806431, TTN (L5742F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 466847	NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln)	LOC126806431, TTN (R5710Q +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1175984	NM_001267550.2(TTN):c.17128C>T (p.Arg5710Trp)	LOC126806431, TTN (R4466W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437843	NM_001267550.2(TTN):c.17124G>C (p.Gln5708His)	LOC126806431, TTN (Q4464H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 504547	NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)	LOC126806431, TTN (E4462K +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 2690333	NM_001267550.2(TTN):c.17018A>G (p.Asp5673Gly)	LOC126806431, TTN (D4429G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 391173	NM_001267550.2(TTN):c.16959T>C (p.Asp5653=)	LOC126806431, TTN	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 332923	NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)	LOC126806431, TTN (P4401L +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 805705	NM_001267550.2(TTN):c.16886G>A (p.Ser5629Asn)	LOC126806431, TTN (S4385N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437528	NM_001267550.2(TTN):c.16879T>C (p.Cys5627Arg)	LOC126806431, TTN (C4383R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 405179	NM_001267550.2(TTN):c.16834G>A (p.Gly5612Ser)	LOC126806431, TTN (G5612S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

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Items: 27