C2675512[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708160	NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)	RPL11	Microsatellite (nonsense)	not provided +1 more	GPathogenic
Select item 2435473	NM_000975.5(RPL11):c.139A>G (p.Thr47Ala)	RPL11 (T46A +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 7	GUncertain significance
Select item 5751	NM_000975.5(RPL11):c.223C>T (p.Arg75Ter)	RPL11 (R75* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2435471	NM_000975.5(RPL11):c.238GAA[1] (p.Glu81del)	RPL11 (E80del +1 more)	Microsatellite (inframe_deletion)	Diamond-Blackfan anemia 7	GUncertain significance
Select item 238201	NM_000975.5(RPL11):c.258T>G (p.Gly86=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
Select item 2435472	NM_000975.5(RPL11):c.264+3G>A	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 7 +1 more	GUncertain significance
Select item 992969	NM_000975.5(RPL11):c.465_466del (p.His155fs)	RPL11 (H154fs +1 more)	Microsatellite (frameshift variant)	Diamond-Blackfan anemia +1 more	GPathogenic/Likely pathogenic

ClinVar