"Revvity Omics, Revvity"[submitter] AND "RPS19"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435479	NM_001022.4(RPS19):c.1-9C>T	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 2435478	NM_001022.4(RPS19):c.124C>T (p.His42Tyr)	RPS19 (H42Y)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 941888	NM_001022.4(RPS19):c.259G>A (p.Val87Ile)	RPS19 (V87I +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 6313	NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)	RPS19 (R94* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 2690490	NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)	RPS19 (Q126* +1 more)	Single nucleotide variant (nonsense +1 more)	Diamond-Blackfan anemia 1	GPathogenic
Select item 1323536	NM_001022.4(RPS19):c.403_404del (p.Ala135fs)	RPS19 (A135fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 1	GPathogenic

ClinVar