"Biesecker Lab/Clinical Genomics Section, National Institutes of Healt - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 192015	NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp)	LOC126806428, TTN (E5882D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46683	NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)	LOC126806428, TTN (A7122T +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 46682	NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)	LOC126806428, TTN (G7058D +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
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 46681	NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)	LOC126806428, TTN (D7036N +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 46680	NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)	LOC126806428, TTN (A7015V +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 46679	NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)	LOC126806428, TTN (I7007F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 46677	NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val)	LOC126806428, TTN (A6954V +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +6 more	GBenign