C0035335[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 312278	NM_000321.3(RB1):c.-156C>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 882643	NM_000321.3(RB1):c.-155G>C	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312279	NM_000321.3(RB1):c.-153G>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 882644	NM_000321.3(RB1):c.-100A>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312280	NM_000321.3(RB1):c.-81G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312281	NM_000321.3(RB1):c.-69G>C	RB1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 237673	NM_000321.3(RB1):c.42C>T (p.Ala14=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 882645	NM_000321.3(RB1):c.137+13A>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GBenign/Likely benign
Select item 312282	NM_000321.3(RB1):c.299G>C (p.Gly100Ala)	RB1 (G100A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 882646	NM_000321.3(RB1):c.331G>A (p.Asp111Asn)	RB1 (D111N)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 458167	NM_000321.3(RB1):c.367A>G (p.Asn123Asp)	RB1 (N123D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 92844	NM_000321.3(RB1):c.380+10C>G	RB1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 92845	NM_000321.3(RB1):c.380+12T>C	RB1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 312283	NM_000321.3(RB1):c.393C>G (p.Phe131Leu)	RB1 (F131L)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 798172	NM_000321.3(RB1):c.397A>C (p.Asn133His)	RB1 (N133H)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GConflicting classifications of pathogenicity
Select item 41684	NM_000321.3(RB1):c.411A>T (p.Glu137Asp)	RB1 (E137D)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 458169	NM_000321.3(RB1):c.462G>A (p.Lys154=)	RB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 312284	NM_000321.3(RB1):c.608-4del	RB1	Deletion (intron variant)	RB1-related condition +4 more	GBenign/Likely benign
Select item 312285	NM_000321.3(RB1):c.616T>C (p.Leu206=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 41685	NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)	RB1 (D210Y)	Single nucleotide variant (missense variant)	Retinoblastoma +3 more	GConflicting classifications of pathogenicity
Select item 312286	NM_000321.3(RB1):c.862-15C>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +1 more	GBenign/Likely benign
Select item 135125	NM_000321.3(RB1):c.920C>T (p.Thr307Ile)	RB1 (T307I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 237678	NM_000321.3(RB1):c.929G>A (p.Gly310Glu)	RB1 (G310E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 312287	NM_000321.3(RB1):c.953C>G (p.Ser318Cys)	RB1 (S318C)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 527934	NM_000321.3(RB1):c.1139A>G (p.Asn380Ser)	RB1 (N380S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 312288	NM_000321.3(RB1):c.1140C>T (p.Asn380=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 237660	NM_000321.3(RB1):c.1306C>A (p.Gln436Lys)	RB1 (Q436K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 881066	NM_000321.3(RB1):c.1332+15T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 312289	NM_000321.3(RB1):c.1333-9dup	RB1	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 641495	NM_000321.3(RB1):c.1378A>G (p.Met460Val)	RB1 (M460V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 167566	NM_000321.3(RB1):c.1390-14A>T	RB1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 255821	NM_000321.3(RB1):c.1390-11A>G	RB1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 819180	NM_000321.3(RB1):c.1422-4T>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +1 more	GConflicting classifications of pathogenicity
Select item 458126	NM_000321.3(RB1):c.1491A>T (p.Thr497=)	RB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 135119	NM_000321.3(RB1):c.1573G>A (p.Ala525Thr)	RB1 (A525T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 135118	NM_000321.3(RB1):c.1574C>G (p.Ala525Gly)	RB1 (A525G)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GBenign/Likely benign
Select item 639950	NM_000321.3(RB1):c.1667G>A (p.Arg556Gln)	RB1 (R556Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 881526	NM_000321.3(RB1):c.1696-11G>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GUncertain significance
Select item 312290	NM_000321.3(RB1):c.1696-4A>G	RB1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 312291	NM_000321.3(RB1):c.1707A>G (p.Leu569=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 512737	NM_000321.3(RB1):c.1764T>A (p.Ser588=)	RB1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 237662	NM_000321.3(RB1):c.1770T>C (p.Cys590=)	RB1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 410947	NM_000321.3(RB1):c.1861C>T (p.Arg621Cys)	RB1 (R621C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 135120	NM_000321.3(RB1):c.1861C>A (p.Arg621Ser)	RB1 (R621S)	Single nucleotide variant (missense variant)	Retinoblastoma +3 more	GConflicting classifications of pathogenicity
Select item 237666	NM_000321.3(RB1):c.1961-12T>C	RB1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 41683	NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)	RB1	Single nucleotide variant (missense variant)	Retinoblastoma +5 more	GConflicting classifications of pathogenicity
Select item 416497	NM_000321.3(RB1):c.1967G>A (p.Arg656Gln)	RB1 (R656Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 882692	NM_000321.3(RB1):c.1996T>C (p.Cys666Arg)	RB1 (C666R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 312292	NM_000321.3(RB1):c.2003G>A (p.Arg668His)	RB1 (R668H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 883471	NM_000321.3(RB1):c.2029G>A (p.Glu677Lys)	RB1 (E677K)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 312293	NM_000321.3(RB1):c.2091C>G (p.Asp697Glu)	RB1 (D697E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 312294	NM_000321.3(RB1):c.2106+8A>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 458143	NM_000321.3(RB1):c.2289A>T (p.Arg763Ser)	RB1 (R763S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 701782	NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)	RB1 (R798Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 312295	NM_000321.3(RB1):c.2463A>G (p.Thr821=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +2 more	GBenign/Likely benign
Select item 312296	NM_000321.3(RB1):c.2521-11G>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +3 more	GBenign/Likely benign
Select item 416490	NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)	RB1 (D856N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 881109	NM_000321.3(RB1):c.2599A>G (p.Asn867Asp)	RB1 (N867D)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 458154	NM_000321.3(RB1):c.2627G>A (p.Arg876His)	RB1 (R876H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 312297	NM_000321.3(RB1):c.2652A>C (p.Glu884Asp)	RB1 (E884D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 92843	NM_000321.3(RB1):c.2664-10T>A	RB1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 881110	NM_000321.3(RB1):c.*68A>G	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312298	NM_000321.3(RB1):c.*162T>G	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312299	NM_000321.3(RB1):c.*172G>A	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GBenign
Select item 312300	NM_000321.3(RB1):c.*184A>T	RB1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 881578	NM_000321.3(RB1):c.*249G>T	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 881579	NM_000321.3(RB1):c.*392T>G	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312301	NM_000321.3(RB1):c.*398G>T	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312302	NM_000321.3(RB1):c.*413T>G	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312303	NM_000321.3(RB1):c.*435A>G	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312304	NM_000321.3(RB1):c.*444ATCT[1]	RB1	Microsatellite (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312305	NM_000321.3(RB1):c.*463T>A	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GBenign
Select item 312306	NM_000321.3(RB1):c.*512A>C	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 881580	NM_000321.3(RB1):c.*573A>G	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312307	NM_000321.3(RB1):c.*604A>T	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312308	NM_000321.3(RB1):c.*673G>T	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312309	NM_000321.3(RB1):c.*703G>T	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GBenign
Select item 312310	NM_000321.3(RB1):c.*788C>A	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312311	NM_000321.3(RB1):c.*964C>G	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GBenign
Select item 312312	NM_000321.3(RB1):c.*998G>A	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312313	NM_000321.3(RB1):c.*1022C>T	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 882729	NM_000321.3(RB1):c.*1044T>A	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312314	NM_000321.3(RB1):c.*1268G>A	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GBenign
Select item 882730	NM_000321.3(RB1):c.*1408C>T	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312315	NM_000321.3(RB1):c.*1459T>C	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312316	NM_000321.3(RB1):c.1527_1528del	RB1	Deletion (3 prime UTR variant)	Retinoblastoma	GLikely benign
Select item 312317	NM_000321.3(RB1):c.*1540A>G	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312318	NM_000321.3(RB1):c.*1544T>C	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312319	NM_000321.3(RB1):c.*1635T>A	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312320	NM_000321.3(RB1):c.*1687T>C	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GBenign
Select item 883517	NM_000321.3(RB1):c.*1707C>T	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 883518	NM_000321.3(RB1):c.*1748A>T	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GBenign
Select item 883519	NM_000321.3(RB1):c.*1771A>G	RB1	Single nucleotide variant (3 prime UTR variant)	Retinoblastoma	GBenign
Select item 239151	NM_002382.5(MAX):c.397G>A (p.Ala133Thr)	MAX (A133T +4 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity

ClinVar

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Items: 94