"PreventionGenetics, part of Exact Sciences"[submitter] AND "RDX"[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 3030347	NM_001260492.2(RDX):c.*7G>C	RDX	Single nucleotide variant (3 prime UTR variant)	RDX-related disorder	GLikely benign
Select item 3058467	NM_002906.4(RDX):c.1588-7dup	RDX	Duplication (intron variant)	RDX-related disorder	GLikely benign
Select item 302342	NM_002906.4(RDX):c.1530C>T (p.Ser510=)	RDX	Single nucleotide variant (synonymous variant +1 more)	RDX-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 44638	NM_002906.4(RDX):c.1487C>T (p.Ala496Val)	RDX (A496V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3044989	NM_002906.4(RDX):c.846C>T (p.Ala282=)	RDX	Single nucleotide variant (synonymous variant +1 more)	RDX-related disorder	GLikely benign
Select item 513899	NM_002906.4(RDX):c.796-9T>C	RDX	Single nucleotide variant (intron variant)	RDX-related disorder +1 more	GLikely benign
Select item 1204034	NM_002906.4(RDX):c.471A>T (p.Val157=)	RDX	Single nucleotide variant (synonymous variant +1 more)	RDX-related disorder +1 more	GLikely benign
Select item 179830	NM_002906.4(RDX):c.97-19TGT[3]	RDX	Microsatellite (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 877232	NM_002906.4(RDX):c.6G>A (p.Pro2=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity