"Ambry Genetics"[submitter] AND "LOC130004144"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 301091	NM_033022.4(RPS24):c.-8T>G	LOC130004144, POLR3A +1 more	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia +4 more	GBenign/Likely benign
Select item 265439	NM_033022.4(RPS24):c.1A>G (p.Met1Val)	LOC130004144, RPS24 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1798673	NM_033022.4(RPS24):c.2T>C (p.Met1Thr)	LOC130004144, RPS24 (M1T)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GPathogenic

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ClinVar