"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC101927055"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1626005	NM_001267550.2(TTN):c.4814+9G>C	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +5 more	GLikely benign
Select item 467191	NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser)	LOC101927055, TTN (I1595S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 440979	NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)	LOC101927055, TTN (I1567T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 430440	NM_001267550.2(TTN):c.4532G>A (p.Gly1511Asp)	LOC101927055, TTN (G1511D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 192085	NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys)	LOC101927055, TTN (R1441C +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 1565712	NM_001267550.2(TTN):c.4314C>T (p.Ser1438=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Tibial muscular dystrophy +5 more	GLikely benign
Select item 594832	NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys)	LOC101927055, TTN (M1437K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 203128	NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser)	LOC101927055, TTN (P1424S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 47040	NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)	LOC101927055, TTN (R1416C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 404738	NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu)	LOC101927055, TTN (V1410L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 467136	NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu)	LOC101927055, TTN (P1390L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 535565	NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr)	LOC101927055, TTN (D1358Y +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 699516	NM_001267550.2(TTN):c.3876A>G (p.Gly1292=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +6 more	GLikely benign
Select item 264610	NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys)	LOC101927055, TTN (E1244K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance