"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 279999	NM_001164508.2(NEB):c.24666del (p.Phe8222fs)	NEB, RIF1 (F6366fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 432817	NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)	RIF1, NEB (Y8231* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic
Select item 550672	NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)	NEB, RIF1 (L8071fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2	GPathogenic/Likely pathogenic
Select item 813957	NM_001164508.2(NEB):c.24115-151C>A	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GUncertain significance
Select item 578209	NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)	NEB, RIF1 (Y7425* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 430110	NM_001164508.2(NEB):c.21417+3A>G	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity

ClinVar