"Ambry Genetics"[submitter] AND "RPL22L1"[gene] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2538229	NM_001099645.2(RPL22L1):c.359C>T (p.Ser120Leu)	RPL22L1 (S119L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554391	NM_001099645.2(RPL22L1):c.347A>G (p.Asp116Gly)	RPL22L1 (D115G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236048	NM_001099645.2(RPL22L1):c.171T>G (p.Ile57Met)	RPL22L1 (I56M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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