"Ambry Genetics"[submitter] AND "LOC126806428"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 263713	NM_001267550.2(TTN):c.21291T>A (p.Asn7097Lys)	LOC126806428, TTN (N5853K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 46682	NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)	LOC126806428, TTN (G7058D +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 46681	NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)	LOC126806428, TTN (D7036N +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +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)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 179098	NM_001267550.2(TTN):c.20892G>A (p.Thr6964=)	LOC126806428, TTN	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 46677	NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val)	LOC126806428, TTN (A6954V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GBenign

ClinVar