"GeneDx"[submitter] AND "RDX"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 1803398	NM_002906.4(RDX):c.1688A>G (p.Lys563Arg)	RDX (K159R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234006	NM_002906.4(RDX):c.1587+173C>T	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270883	NM_002906.4(RDX):c.1587+38T>G	RDX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1703468	NM_002906.4(RDX):c.1568G>A (p.Arg523His)	RDX (R176H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2501372	NM_002906.4(RDX):c.1522C>T (p.His508Tyr)	RDX (H161Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 1207179	NM_002906.4(RDX):c.1398G>T (p.Val466=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2502096	NM_002906.4(RDX):c.1384G>C (p.Glu462Gln)	RDX (E115Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3364602	NM_002906.4(RDX):c.1348T>C (p.Phe450Leu)	RDX (F103L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1227775	NM_002906.4(RDX):c.1345-219_1345-218insGAC	RDX	Insertion (intron variant)	not provided	GBenign
Select item 1220127	NM_002906.4(RDX):c.1344+290T>G	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207375	NM_002906.4(RDX):c.1344+222A>G	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243330	NM_002906.4(RDX):c.1344+78G>A	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 179168	NM_002906.4(RDX):c.1282A>G (p.Ile428Val)	RDX (I428V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1189667	NM_002906.4(RDX):c.1251+44T>C	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192729	NM_002906.4(RDX):c.1251+23dup	RDX	Duplication (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 +1 more	GUncertain significance
Select item 1208180	NM_002906.4(RDX):c.1090+249A>C	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244921	NM_002906.4(RDX):c.1090+64T>G	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
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 504673	NM_002906.4(RDX):c.1037A>C (p.Glu346Ala)	RDX (E346A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1065015	NM_002906.4(RDX):c.1024C>T (p.Arg342Cys)	RDX (R206C +1 more)	Single nucleotide variant (missense variant +2 more)	Hearing impairment +1 more	GUncertain significance
Select item 229200	NM_002906.4(RDX):c.995T>C (p.Ile332Thr)	RDX (I332T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1182770	NM_002906.4(RDX):c.960-236C>G	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3373727	NM_002906.4(RDX):c.912G>A (p.Gln304=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 513899	NM_002906.4(RDX):c.796-9T>C	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683958	NM_002906.4(RDX):c.796-39C>G	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 3377870	NM_002906.4(RDX):c.773A>T (p.Lys258Met)	RDX (K122M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1691806	NM_002906.4(RDX):c.766G>C (p.Val256Leu)	RDX (V120L +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1247924	NM_002906.4(RDX):c.699-87T>C	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204034	NM_002906.4(RDX):c.471A>T (p.Val157=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 302352	NM_002906.4(RDX):c.468-12dup	RDX	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 682571	NM_002906.4(RDX):c.468-80G>C	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235729	NM_002906.4(RDX):c.467+77dup	RDX	Duplication (intron variant)	not provided	GBenign
Select item 1806659	NM_002906.4(RDX):c.413A>G (p.Asn138Ser)	RDX (N106S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1706383	NM_002906.4(RDX):c.401A>G (p.Tyr134Cys)	RDX (Y102C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663362	NM_002906.4(RDX):c.394G>A (p.Ala132Thr)	RDX (A100T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1802039	NM_002906.4(RDX):c.236A>G (p.Lys79Arg)	RDX (K47R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1345018	NM_002906.4(RDX):c.192+42G>A	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 179830	NM_002906.4(RDX):c.97-19TGT[3]	RDX	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1195413	NM_002906.4(RDX):c.97-234dup	RDX	Duplication (intron variant)	not provided	GLikely benign
Select item 1189581	NM_002906.4(RDX):c.97-224del	RDX	Deletion (intron variant)	not provided	GLikely benign
Select item 1277958	NM_002906.4(RDX):c.97-235C>A	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226750	NM_002906.4(RDX):c.97-241_97-240insC	RDX	Insertion (intron variant)	not provided	GBenign
Select item 1239241	NM_002906.4(RDX):c.96+207T>C	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217067	NM_002906.4(RDX):c.13-202C>T	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193436	NM_002906.4(RDX):c.13-301G>A	RDX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282187	NM_002906.4(RDX):c.12+191G>A	RDX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 877232	NM_002906.4(RDX):c.6G>A (p.Pro2=)	RDX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 302353	NM_002906.4(RDX):c.-64-6dup	RDX	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 302354	NM_002906.4(RDX):c.-64-6del	RDX	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1245905	NM_002906.4(RDX):c.-64-110dup	RDX	Duplication (intron variant)	not provided	GBenign
Select item 3360086	NM_002906.4(RDX):c.1344+4A>G	RDX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3359727	NM_002906.4(RDX):c.263A>G (p.Asp88Gly)	RDX (D56G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 67