C1850569[trait identifier] AND "Rady Children's Institute for Genomic - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521691	NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 692008	NM_001164508.2(NEB):c.24238dup (p.Thr8080fs)	RIF1, NEB (T8080fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2	GPathogenic
Select item 373977	NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	NEB, RIF1 (R8032* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 691986	NM_001164508.2(NEB):c.19626+1G>A	LOC126806373, NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy +2 more	GLikely pathogenic
Select item 986357	NM_001164508.2(NEB):c.10872+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2	GPathogenic
Select item 2434241	NM_001164508.2(NEB):c.9812C>T (p.Ser3271Phe)	NEB (S3028F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 986361	NM_001164508.2(NEB):c.7956+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2	GPathogenic
Select item 556741	NM_001164508.2(NEB):c.2416-1G>C	NEB	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 692009	NM_001164508.2(NEB):c.937C>T (p.Gln313Ter)	NEB (Q313*)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GPathogenic

ClinVar