"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126806429" - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46667	NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)	LOC126806429, TTN (I6725M +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 46666	NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)	LOC126806429, TTN (M6716K +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 203283	NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln)	LOC126806429, TTN (R6386Q +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GConflicting classifications of pathogenicity
Select item 192020	NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp)	LOC126806429, TTN (E5421D +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 893850	NM_001267550.2(TTN):c.19994-13C>T	LOC126806429, TTN	Single nucleotide variant (intron variant)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GConflicting classifications of pathogenicity
Select item 46664	NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)	LOC126806429, TTN (T6659M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GBenign/Likely benign
Select item 535566	NM_001267550.2(TTN):c.19770A>G (p.Thr6590=)	LOC126806429, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 46661	NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)	LOC126806429, TTN (P6580S +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GConflicting classifications of pathogenicity