"Genome-Nilou Lab"[submitter] AND "LOC126806424"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 228116	NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 47159	NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys)	LOC126806424, TTN +1 more (E20019K +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 47156	NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 47152	NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu)	LOC126806424, TTN +1 more (P19862L +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +7 more	GBenign/Likely benign
Select item 47148	NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)	LOC126806424, TTN +1 more (P19772L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign

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