"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126806433"[gen - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 519185	NM_001267550.2(TTN):c.7399A>G (p.Lys2467Glu)	LOC126806433, TTN (K2421E +1 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 1297652	NM_001267550.2(TTN):c.7208T>C (p.Ile2403Thr)	LOC126806433, TTN (I2357T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 594858	NM_001267550.2(TTN):c.6995A>G (p.Asp2332Gly)	LOC126806433, TTN (D2332G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
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 498058	NM_001267550.2(TTN):c.6953G>A (p.Arg2318His)	LOC126806433, TTN (R2318H +1 more)	Single nucleotide variant (missense variant)	not provided +6 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)	not provided +7 more	GUncertain significance
Select item 499692	NM_001267550.2(TTN):c.6895T>C (p.Trp2299Arg)	LOC126806433, TTN (W2299R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance