"Department of Clinical Genetics, Nationwide Children's Hospital"[subm - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570703	NM_001267550.2(TTN):c.99790_99791dup (p.Ala33265fs)	LOC126806420, TTN +1 more (A24200fs +5 more)	Duplication (non-coding transcript variant +1 more)	Titinopathy	GPathogenic
Select item 2570705	NM_001267550.2(TTN):c.94286G>A (p.Trp31429Ter)	TTN, TTN-AS1 (W22364* +5 more)	Single nucleotide variant (nonsense)	Titinopathy	GLikely pathogenic
Select item 2570704	NM_001267550.2(TTN):c.3523+206G>A	TTN	Single nucleotide variant (intron variant)	Titinopathy	GUncertain significance

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ClinVar