"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126806428"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 595429	NM_001267550.2(TTN):c.21292G>A (p.Val7098Ile)	LOC126806428, TTN (V7098I +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 466892	NM_001267550.2(TTN):c.21246C>T (p.Thr7082=)	LOC126806428, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +5 more	GLikely benign
Select item 178243	NM_001267550.2(TTN):c.21227C>T (p.Ala7076Val)	LOC126806428, TTN (A5832V +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 192016	NM_001267550.2(TTN):c.21172G>C (p.Gly7058Arg)	LOC126806428, TTN (G5814R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GUncertain significance
Select item 283326	NM_001267550.2(TTN):c.21163G>T (p.Gly7055Trp)	LOC126806428, TTN (G5811W +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GUncertain significance
Select item 535437	NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln)	LOC126806428, TTN (R7048Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 1024391	NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter)	LOC126806428, TTN (R5796* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 586873	NM_001267550.2(TTN):c.20986T>C (p.Phe6996Leu)	LOC126806428, TTN (F6996L +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 404694	NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met)	LOC126806428, TTN (T6964M +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 466887	NM_001267550.2(TTN):c.20873C>T (p.Thr6958Met)	LOC126806428, TTN (T6958M +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 203292	NM_001267550.2(TTN):c.20869A>T (p.Met6957Leu)	LOC126806428, TTN (M6640L +2 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +6 more	GUncertain significance