"Ambry Genetics"[submitter] AND "RPS10"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2716893	NM_001014.5(RPS10):c.409G>A (p.Asp137Asn)	RPS10, RPS10-NUDT3 (D137N)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 356419	NM_001014.5(RPS10):c.408C>T (p.Ala136=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	RPS10-NUDT3-related condition +5 more	GBenign/Likely benign
Select item 2302403	NM_001014.5(RPS10):c.403G>T (p.Gly135Cys)	RPS10, RPS10-NUDT3 (G135C)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 516589	NM_001014.5(RPS10):c.401-18C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign
Select item 1732548	NM_001014.5(RPS10):c.354A>C (p.Thr118=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 6187	NM_001014.5(RPS10):c.337C>T (p.Arg113Ter)	RPS10, RPS10-NUDT3 (R113*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia	GPathogenic
Select item 1558422	NM_001014.5(RPS10):c.312T>A (p.Pro104=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 9 +2 more	GLikely benign
Select item 1797677	NM_001014.5(RPS10):c.291C>T (p.Ser97=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2447621	NM_001014.5(RPS10):c.288T>G (p.Arg96=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1794680	NM_001014.5(RPS10):c.268_275del (p.Val90fs)	RPS10, RPS10-NUDT3 (V90fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 1795053	NM_001014.5(RPS10):c.270G>A (p.Val90=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 463371	NM_001014.5(RPS10):c.261G>A (p.Pro87=)	RPS10-NUDT3, RPS10	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 238211	NM_001014.5(RPS10):c.231G>A (p.Gln77=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 9 +2 more	GBenign/Likely benign
Select item 1610227	NM_001014.5(RPS10):c.189C>T (p.Ala63=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1082465	NM_001014.5(RPS10):c.186T>C (p.Phe62=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1770576	NM_001014.5(RPS10):c.134T>A (p.Val45Asp)	RPS10, RPS10-NUDT3 (V45D)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2280203	NM_001014.5(RPS10):c.130C>A (p.His44Asn)	RPS10, RPS10-NUDT3 (H44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1779863	NM_001014.5(RPS10):c.105G>A (p.Leu35=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1115086	NM_001014.5(RPS10):c.103C>T (p.Leu35=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 356422	NM_001014.5(RPS10):c.71A>G (p.Lys24Arg)	RPS10-NUDT3, RPS10 (K24R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +2 more	GConflicting classifications of pathogenicity
Select item 3232358	NM_001014.5(RPS10):c.60C>G (p.Val20=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 856444	NM_001014.5(RPS10):c.40C>T (p.Leu14Phe)	RPS10, RPS10-NUDT3 (L14F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 356423	NM_001014.5(RPS10):c.6G>A (p.Leu2=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign

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Items: 23