"Illumina Laboratory Services, Illumina"[submitter] AND "RD3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 295220	NM_001164688.2(RD3):c.*2503G>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GLikely benign
Select item 295221	NM_001164688.2(RD3):c.*2481A>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875565	NM_001164688.2(RD3):c.*2464C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875566	NM_001164688.2(RD3):c.*2451A>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295222	NM_001164688.2(RD3):c.*2402A>G	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875567	NM_001164688.2(RD3):c.*2330C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295223	NM_001164688.2(RD3):c.*2317G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295224	NM_001164688.2(RD3):c.*2311C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875568	NM_001164688.2(RD3):c.*2247A>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295225	NM_001164688.2(RD3):c.*2138T>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295226	NM_001164688.2(RD3):c.*2098G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295227	NM_001164688.2(RD3):c.*2081C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 876564	NM_001164688.2(RD3):c.*2007G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295228	NM_001164688.2(RD3):c.*1983C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 876565	NM_001164688.2(RD3):c.*1712G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295229	NM_001164688.2(RD3):c.*1672C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295230	NM_001164688.2(RD3):c.*1652C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295231	NM_001164688.2(RD3):c.*1649T>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GBenign
Select item 295232	NM_001164688.2(RD3):c.*1634G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295234	NM_001164688.2(RD3):c.*1582dup	RD3	Duplication (3 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295233	NM_001164688.2(RD3):c.*1583del	RD3	Deletion (3 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295235	NM_001164688.2(RD3):c.*1582del	RD3	Deletion (3 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295236	NM_001164688.2(RD3):c.*1555T>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 873703	NM_001164688.2(RD3):c.*1553C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295237	NM_001164688.2(RD3):c.*1343G>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GBenign
Select item 295238	NM_001164688.2(RD3):c.*1342T>G	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295239	NM_001164688.2(RD3):c.*1331G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GBenign
Select item 873704	NM_001164688.2(RD3):c.*1323G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 873705	NM_001164688.2(RD3):c.*1310G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295240	NM_001164688.2(RD3):c.1307_1308insCT	RD3	Insertion (3 prime UTR variant)	Leber congenital amaurosis	GLikely benign
Select item 295241	NM_001164688.2(RD3):c.*1305del	RD3	Deletion (3 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295242	NM_001164688.2(RD3):c.*1287T>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295243	NM_001164688.2(RD3):c.*1281G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GLikely benign
Select item 295244	NM_001164688.2(RD3):c.*1277G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295245	NM_001164688.2(RD3):c.*1108C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 874675	NM_001164688.2(RD3):c.*1039T>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GLikely benign
Select item 874676	NM_001164688.2(RD3):c.*1005C>G	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295246	NM_001164688.2(RD3):c.*882C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875617	NM_001164688.2(RD3):c.*834G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GLikely benign
Select item 874677	NM_001164688.2(RD3):c.*834G>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GLikely benign
Select item 875618	NM_001164688.2(RD3):c.*814C>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295247	NM_001164688.2(RD3):c.*738T>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875619	NM_001164688.2(RD3):c.*592C>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875620	NM_001164688.2(RD3):c.*591T>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295248	NM_001164688.2(RD3):c.*590T>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295249	NM_001164688.2(RD3):c.*527G>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295250	NM_001164688.2(RD3):c.*471C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GBenign
Select item 295251	NM_001164688.2(RD3):c.*368A>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GBenign
Select item 876617	NM_001164688.2(RD3):c.*330G>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 876618	NM_001164688.2(RD3):c.*263T>G	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 876619	NM_001164688.2(RD3):c.*213C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295252	NM_001164688.2(RD3):c.*193G>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GBenign
Select item 876620	NM_001164688.2(RD3):c.*44G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 445480	NM_001164688.2(RD3):c.584A>T (p.Asp195Val)	RD3 (D195V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12 +2 more	GBenign/Likely benign
Select item 295253	NM_001164688.2(RD3):c.545G>A (p.Arg182Gln)	RD3 (R182Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295254	NM_001164688.2(RD3):c.527A>G (p.Asp176Gly)	RD3 (D176G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 772783	NM_001164688.2(RD3):c.519G>A (p.Val173=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GConflicting classifications of pathogenicity
Select item 707391	NM_001164688.2(RD3):c.500G>A (p.Arg167Lys)	RD3 (R167K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GBenign
Select item 767424	NM_001164688.2(RD3):c.494A>C (p.Asp165Ala)	RD3 (D165A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GConflicting classifications of pathogenicity
Select item 295255	NM_001164688.2(RD3):c.493G>A (p.Asp165Asn)	RD3 (D165N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295256	NM_001164688.2(RD3):c.468C>T (p.Arg156=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GConflicting classifications of pathogenicity
Select item 295257	NM_001164688.2(RD3):c.259A>G (p.Lys87Glu)	RD3 (K87E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12 +1 more	GUncertain significance
Select item 295258	NM_001164688.2(RD3):c.233G>A (p.Arg78Gln)	RD3 (R78Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295259	NM_001164688.2(RD3):c.227T>C (p.Ile76Thr)	RD3 (I76T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 874724	NM_001164688.2(RD3):c.182G>A (p.Ser61Asn)	RD3 (S61N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 874725	NM_001164688.2(RD3):c.150G>A (p.Ala50=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GConflicting classifications of pathogenicity
Select item 167572	NM_001164688.2(RD3):c.139C>T (p.Arg47Cys)	RD3 (R47C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 295260	NM_001164688.2(RD3):c.134G>A (p.Arg45Gln)	RD3 (R45Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 733845	NM_001164688.2(RD3):c.102G>A (p.Thr34=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GConflicting classifications of pathogenicity
Select item 707694	NM_001164688.2(RD3):c.84G>A (p.Thr28=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GBenign
Select item 295261	NM_001164688.2(RD3):c.-12+10A>C	RD3	Single nucleotide variant (intron variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295262	NM_001164688.2(RD3):c.-25G>A	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875665	NM_001164688.2(RD3):c.-138C>A	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875664	NM_001164688.2(RD3):c.-138C>G	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295263	NM_001164688.2(RD3):c.-139C>T	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295264	NM_001164688.2(RD3):c.-166GA[1]	RD3	Microsatellite (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295265	NM_001164688.2(RD3):c.-188G>A	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295266	NM_001164688.2(RD3):c.-189C>T	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295267	NM_001164688.2(RD3):c.-201_-200insC	RD3	Insertion (5 prime UTR variant)	Leber congenital amaurosis	GBenign
Select item 295270	NM_001164688.2(RD3):c.-291T>C	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295269	NM_001164688.2(RD3):c.-293_-292dup	RD3	Duplication (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295268	NM_001164688.2(RD3):c.-292_-291del	RD3	Deletion (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295272	NM_001164688.2(RD3):c.-336AC[24]	RD3	Microsatellite (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295271	NM_001164688.2(RD3):c.-336AC[23]	RD3	Microsatellite (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295276	NM_001164688.2(RD3):c.-336AC[21]	RD3	Microsatellite (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295275	NM_001164688.2(RD3):c.-336AC[16]	RD3	Microsatellite (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295274	NM_001164688.2(RD3):c.-336AC[19]	RD3	Microsatellite (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295273	NM_001164688.2(RD3):c.-336AC[20]	RD3	Microsatellite (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295279	NM_001164688.2(RD3):c.-294A>C	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GLikely benign
Select item 295278	NM_001164688.2(RD3):c.-304_-294delinsC	RD3	Indel (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295277	NM_001164688.2(RD3):c.-302_-294delinsC	RD3	Indel (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 876661	NM_001164688.2(RD3):c.-296A>C	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295280	NM_001164688.2(RD3):c.-302A>C	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295281	NM_001164688.2(RD3):c.-304A>C	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295282	NM_001164688.2(RD3):c.-329C>T	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295283	NM_001164688.2(RD3):c.-332A>G	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295284	NM_001164688.2(RD3):c.-337_-336del	RD3	Deletion (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295285	NM_001164688.2(RD3):c.-340_-337del	RD3	Deletion (5 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295286	NM_001164688.2(RD3):c.-340G>A	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295287	NM_001164688.2(RD3):c.-341C>T	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance

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