"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126806433" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 894144	NM_001267550.2(TTN):c.7408G>A (p.Val2470Ile)	LOC126806433, TTN (V2470I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +4 more	GUncertain significance
Select item 332946	NM_001267550.2(TTN):c.7403T>C (p.Val2468Ala)	LOC126806433, TTN (V2468A +1 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 332947	NM_001267550.2(TTN):c.7368G>C (p.Val2456=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 893124	NM_001267550.2(TTN):c.7300C>T (p.Leu2434Phe)	LOC126806433, TTN (L2388F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GUncertain significance
Select item 47377	NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)	LOC126806433, TTN (G2392S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GBenign/Likely benign
Select item 332948	NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)	LOC126806433, TTN (G2386S +1 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 47365	NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)	LOC126806433, TTN (R2354H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 332949	NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys)	LOC126806433, TTN (R2320C +1 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 203150	NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys)	LOC126806433, TTN (Y2300C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance