C0002871[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812883	NM_000975.5(RPL11):c.142_143dup (p.Val49fs)	RPL11 (V48fs +1 more)	Duplication (frameshift variant)	Anemia +1 more	GLikely pathogenic
Select item 812886	NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)	NRAS (A59D)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GLikely pathogenic
Select item 812890	NM_003126.4(SPTA1):c.2464+1G>A	SPTA1	Single nucleotide variant (splice donor variant)	SPTA1-related disorder +1 more	GLikely pathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 812897	NM_001029.5(RPS26):c.312+2T>A	RPS26	Single nucleotide variant (splice donor variant)	Anemia +1 more	GLikely pathogenic
Select item 812972	NM_002049.4(GATA1):c.680C>T (p.Ala227Val)	GATA1 (A227V)	Single nucleotide variant (missense variant)	Anemia +1 more	GLikely pathogenic

ClinVar