"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "RDX"[ge - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1669590	NM_002906.4(RDX):c.1588-16T>C	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 760742	NM_002906.4(RDX):c.1551A>G (p.Glu517=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 227899	NM_002906.4(RDX):c.1548C>T (p.Thr516=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 302342	NM_002906.4(RDX):c.1530C>T (p.Ser510=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 761724	NM_002906.4(RDX):c.1515A>G (p.Val505=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1421978	NM_002906.4(RDX):c.1497A>T (p.Glu499Asp)	RDX (E152D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 44638	NM_002906.4(RDX):c.1487C>T (p.Ala496Val)	RDX (A496V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1914263	NM_002906.4(RDX):c.1473G>A (p.Glu491=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 44637	NM_002906.4(RDX):c.1468G>A (p.Asp490Asn)	RDX (D490N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1915154	NM_002906.4(RDX):c.1452C>T (p.Asn484=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1388586	NM_002906.4(RDX):c.1421C>T (p.Pro474Leu)	RDX (P474L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2038747	NM_002906.4(RDX):c.1417C>T (p.Pro473Ser)	RDX (P337S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 302344	NM_002906.4(RDX):c.1411C>G (p.Pro471Ala)	RDX (P471A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1942867	NM_002906.4(RDX):c.1410C>T (p.Pro470=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1193938	NM_002906.4(RDX):c.1410C>G (p.Pro470=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 179346	NM_002906.4(RDX):c.1410C>A (p.Pro470=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1644312	NM_002906.4(RDX):c.1365C>T (p.Asp455=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 179698	NM_002906.4(RDX):c.1364A>C (p.Asp455Ala)	RDX (D455A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 501592	NM_002906.4(RDX):c.1345-7T>C	RDX	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 24 +1 more	GConflicting classifications of pathogenicity
Select item 1241237	NM_002906.4(RDX):c.1345-18C>T	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021805	NM_002906.4(RDX):c.1314G>A (p.Lys438=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2786969	NM_002906.4(RDX):c.1305G>A (p.Lys435=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 179168	NM_002906.4(RDX):c.1282A>G (p.Ile428Val)	RDX (I428V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 731759	NM_002906.4(RDX):c.1272C>T (p.Phe424=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 773253	NM_002906.4(RDX):c.1260A>G (p.Glu420=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955794	NM_002906.4(RDX):c.1251+13C>G	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 229197	NM_002906.4(RDX):c.1154A>C (p.Glu385Ala)	RDX (E385A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 667320	NM_002906.4(RDX):c.1106C>G (p.Thr369Ser)	RDX (T369S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3021182	NM_002906.4(RDX):c.1077T>C (p.Ile359=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 44636	NM_002906.4(RDX):c.1059A>G (p.Gln353=)	RDX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24 +2 more	GConflicting classifications of pathogenicity
Select item 302348	NM_002906.4(RDX):c.1049G>A (p.Arg350His)	RDX (R350H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2197025	NM_002906.4(RDX):c.1005G>A (p.Lys335=)	RDX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2124387	NM_002906.4(RDX):c.989G>C (p.Arg330Thr)	RDX (R330T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1558036	NM_002906.4(RDX):c.959+13T>C	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980520	NM_002906.4(RDX):c.959+8G>T	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863763	NM_002906.4(RDX):c.930_931del (p.Glu311fs)	RDX (E175fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 505257	NM_002906.4(RDX):c.906A>G (p.Val302=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 513899	NM_002906.4(RDX):c.796-9T>C	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 178527	NM_002906.4(RDX):c.778A>G (p.Ile260Val)	RDX (I260V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 286303	NM_002906.4(RDX):c.777A>G (p.Pro259=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2000410	NM_002906.4(RDX):c.764T>G (p.Phe255Cys)	RDX (F119C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1396029	NM_002906.4(RDX):c.761A>T (p.Lys254Ile)	RDX (K254I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1528974	NM_002906.4(RDX):c.698+19T>C	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674057	NM_002906.4(RDX):c.698+16G>T	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1989650	NM_002906.4(RDX):c.693C>T (p.Asp231=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1070633	NM_002906.4(RDX):c.682_685del (p.Tyr228fs)	RDX (Y228fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1694647	NM_002906.4(RDX):c.652C>T (p.Leu218=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1926917	NM_002906.4(RDX):c.648G>A (p.Leu216=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2418984	NM_002906.4(RDX):c.484_487del (p.His161_Lys162insTer)	RDX	Deletion (nonsense +1 more)	not provided	GPathogenic
Select item 227900	NM_002906.4(RDX):c.471A>G (p.Val157=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1583953	NM_002906.4(RDX):c.467+15C>A	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2181983	NM_002906.4(RDX):c.466C>T (p.Arg156Cys)	RDX (R124C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2090492	NM_002906.4(RDX):c.399G>A (p.Lys133=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1965656	NM_002906.4(RDX):c.387T>C (p.Ala129=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989460	NM_002906.4(RDX):c.354G>A (p.Pro118=)	RDX	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 165054	NM_002906.4(RDX):c.354G>T (p.Pro118=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1377095	NM_002906.4(RDX):c.339T>G (p.Asp113Glu)	RDX (D113E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 229198	NM_002906.4(RDX):c.256C>G (p.Pro86Ala)	RDX (P86A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2997802	NM_002906.4(RDX):c.192+12A>G	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1388912	NM_002906.4(RDX):c.146A>G (p.Tyr49Cys)	RDX (Y49C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1576464	NM_002906.4(RDX):c.123G>A (p.Glu41=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 179830	NM_002906.4(RDX):c.97-19TGT[3]	RDX	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 44639	NM_002906.4(RDX):c.72A>G (p.Thr24=)	RDX (Q12R)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 877232	NM_002906.4(RDX):c.6G>A (p.Pro2=)	RDX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24 +1 more	GConflicting classifications of pathogenicity
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	NKAPD1, NPAT +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic

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Items: 65