"Fulgent Genetics, Fulgent Genetics"[submitter] AND "RPS10-NUDT3"[gene - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1336843	NM_001014.5(RPS10):c.444C>T (p.Thr148=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 906570	NM_001014.5(RPS10):c.432T>G (p.Ala144=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 356419	NM_001014.5(RPS10):c.408C>T (p.Ala136=)	RPS10-NUDT3, RPS10	Single nucleotide variant (synonymous variant)	RPS10-NUDT3-related disorder +5 more	GBenign/Likely benign
Select item 1659137	NM_001014.5(RPS10):c.351C>T (p.Leu117=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 9 +1 more	GLikely benign
Select item 1558422	NM_001014.5(RPS10):c.312T>A (p.Pro104=)	RPS10-NUDT3, RPS10	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 9 +2 more	GLikely benign
Select item 463371	NM_001014.5(RPS10):c.261G>A (p.Pro87=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 463370	NM_001014.5(RPS10):c.204C>T (p.Tyr68=)	RPS10-NUDT3, RPS10	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 9 +3 more	GBenign/Likely benign
Select item 997511	NM_001014.5(RPS10):c.89C>T (p.Pro30Leu)	RPS10, RPS10-NUDT3 (P30L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9 +1 more	GUncertain significance
Select item 516588	NM_001014.5(RPS10):c.1-18A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign