"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126806421"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693832	NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser)	LOC126806421, TTN +1 more (P23247S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 238871	NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro)	LOC126806421, TTN +1 more (T32310P +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 405088	NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln)	LOC126806421, TTN +1 more (R32233Q +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1068361	NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)	LOC126806421, TTN +1 more (W23158* +5 more)	Single nucleotide variant (nonsense)	Tibial muscular dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 592915	NM_001267550.2(TTN):c.96644C>G (p.Thr32215Ser)	TTN-AS1, LOC126806421 +1 more (T29647S +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 203024	NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)	LOC126806421, TTN +1 more (D30572N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 1460556	NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro)	LOC126806421, TTN +1 more (L23104P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 808910	NM_001267550.2(TTN):c.96434G>A (p.Arg32145His)	LOC126806421, TTN +1 more (R23205H +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 535132	NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile)	LOC126806421, TTN +1 more (V32142I +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 47569	NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)	LOC126806421, TTN +1 more (A32096T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 567738	NM_001267550.2(TTN):c.96198C>G (p.Ser32066Arg)	LOC126806421, TTN +1 more (S32066R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 47564	NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)	LOC126806421, TTN +1 more (T32047M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity