C1850569[trait identifier] AND "Division of Genetics, Dept of Pediatri - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506581	NM_001164508.2(NEB):c.23494dup (p.Thr7832fs)	NEB, RIF1 (T6131fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 2505526	NM_001164508.2(NEB):c.9638G>A (p.Trp3213Ter)	NEB (W2970* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 2505525	NM_001164508.2(NEB):c.4333A>T (p.Lys1445Ter)	NEB (K1445*)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic

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