"Revvity Omics, Revvity"[submitter] AND "RPS26"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6122	NM_001029.5(RPS26):c.1A>G (p.Met1Val)	RPS26 (M1V)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 10 +2 more	GPathogenic
Select item 2690689	NM_001029.5(RPS26):c.2T>A (p.Met1Lys)	RPS26 (M1K)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 10	GLikely pathogenic
Select item 1325016	NM_001029.5(RPS26):c.3+2T>G	RPS26	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 10	GLikely pathogenic
Select item 2689886	NM_001029.5(RPS26):c.3+5G>C	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2435482	NM_001029.5(RPS26):c.70A>G (p.Thr24Ala)	RPS26 (T24A)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 1356399	NM_001029.5(RPS26):c.73_76del (p.Asn25fs)	RPS26 (N25fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia +1 more	GPathogenic/Likely pathogenic
Select item 2433019	NM_001029.5(RPS26):c.181+1G>A	RPS26	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 10	GLikely pathogenic
Select item 2435481	NM_001029.5(RPS26):c.344T>C (p.Met115Thr)	RPS26 (M115T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10 +1 more	GConflicting classifications of pathogenicity

ClinVar