RB1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1311508	NC_000013.11:g.48303704A>G	RB1	Single nucleotide variant	not provided	GUncertain significance
Select item 2727747	NC_000013.11:g.48303711G>A	RB1	Single nucleotide variant	Retinoblastoma +2 more	GUncertain significance
Select item 2878977	NC_000013.11:g.48303712G>T	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 1066897	NC_000013.11:g.48303714_48303721del	RB1	Deletion	Retinoblastoma	GLikely pathogenic
Select item 3074627	NC_000013.11:g.48303714C>T	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 3237119	NM_000321.3(RB1):c.-198_-189delinsAA	RB1	Indel	Retinoblastoma	GLikely pathogenic
Select item 13086	NM_000321.3(RB1):c.-198G>A	RB1	Single nucleotide variant	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 3237097	NM_000321.3(RB1):c.-197G>T	RB1	Single nucleotide variant	Retinoblastoma	GLikely pathogenic
Select item 3237041	NM_000321.3(RB1):c.-197G>A	RB1	Single nucleotide variant	Retinoblastoma	GLikely pathogenic
Select item 3236979	NM_000321.3(RB1):c.-197G>C	RB1	Single nucleotide variant	Retinoblastoma	GLikely pathogenic
Select item 13085	NM_000321.3(RB1):c.-189G>T	RB1	Single nucleotide variant	Retinoblastoma	GLikely pathogenic
Select item 2875377	NC_000013.11:g.48303740A>T	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 3013144	NC_000013.11:g.48303741C>T	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 2912983	NC_000013.11:g.48303742G>A	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 2754025	NC_000013.11:g.48303745G>A	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 2858986	NC_000013.11:g.48303748C>T	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 2734315	NM_000321.3(RB1):c.-160T>C	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2915146	NM_000321.3(RB1):c.-158G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2982252	NM_000321.3(RB1):c.-157C>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
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 2629143	NM_000321.3(RB1):c.-153G>C	RB1	Single nucleotide variant (5 prime UTR variant)	RB1-related disorder	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 2917985	NM_000321.3(RB1):c.-152C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 3364065	NM_000321.3(RB1):c.-151G>A	RB1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 997629	NM_000321.3(RB1):c.-149G>T	RB1	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2712482	NM_000321.3(RB1):c.-147G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2715626	NM_000321.3(RB1):c.-134G>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 3003796	NM_000321.3(RB1):c.-128C>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2907279	NM_000321.3(RB1):c.-126C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2983616	NM_000321.3(RB1):c.-125A>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2964850	NM_000321.3(RB1):c.-125A>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2899770	NM_000321.3(RB1):c.-123G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2801585	NM_000321.3(RB1):c.-121G>A	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 2994302	NM_000321.3(RB1):c.-98G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2999297	NM_000321.3(RB1):c.-85G>C	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2706003	NM_000321.3(RB1):c.-78del	RB1	Deletion (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 2728937	NM_000321.3(RB1):c.-80G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2889857	NM_000321.3(RB1):c.-79G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2713555	NM_000321.3(RB1):c.-76G>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2702258	NM_000321.3(RB1):c.-72C>T	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)	Retinoblastoma +1 more	GConflicting classifications of pathogenicity
Select item 2693858	NM_000321.3(RB1):c.-65T>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2722765	NM_000321.3(RB1):c.-48C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GBenign
Select item 2918977	NM_000321.3(RB1):c.-37C>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2767260	NM_000321.3(RB1):c.-29C>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2960634	NM_000321.3(RB1):c.-15C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2848407	NM_000321.3(RB1):c.-15C>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 1319459	NM_000321.3(RB1):c.-11G>A	RB1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2760811	NM_000321.3(RB1):c.-4C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2692724	NM_000321.3(RB1):c.-2_8del (p.Met1fs)	RB1 (M1fs)	Deletion (frameshift variant +1 more)	Retinoblastoma	GUncertain significance
Select item 1798679	NM_000321.3(RB1):c.-2T>C	RB1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798670	NM_000321.3(RB1):c.-2T>A	RB1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822549	NM_000321.3(RB1):c.-2T>G	RB1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 820486	NM_000321.3(RB1):c.-1C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma +1 more	GUncertain significance
Select item 1428673	NM_000321.3(RB1):c.1A>T (p.Met1Leu)	RB1 (M1L)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GUncertain significance
Select item 428711	NM_000321.3(RB1):c.9_42dup (p.Ala15fs)	RB1 (A15fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 956496	NM_000321.3(RB1):c.4C>A (p.Pro2Thr)	RB1 (P2T)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 1137269	NM_000321.3(RB1):c.6G>A (p.Pro2=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 762036	NM_000321.3(RB1):c.6G>T (p.Pro2=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3231250	NM_000321.3(RB1):c.7C>T (p.Pro3Ser)	RB1 (P3S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231249	NM_000321.3(RB1):c.7C>G (p.Pro3Ala)	RB1 (P3A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2678279	NM_000321.3(RB1):c.8C>T (p.Pro3Leu)	RB1 (P3L)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +1 more	GUncertain significance
Select item 2692725	NM_000321.3(RB1):c.9_10delinsGG (p.Lys4Glu)	RB1 (K4E)	Indel (missense variant)	Retinoblastoma	GUncertain significance
Select item 1768924	NM_000321.3(RB1):c.9C>T (p.Pro3=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 1768912	NM_000321.3(RB1):c.9C>A (p.Pro3=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2582267	NM_000321.3(RB1):c.13del (p.Thr5fs)	RB1 (T5fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 852967	NM_000321.3(RB1):c.11A>G (p.Lys4Arg)	RB1 (K4R)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2063812	NM_000321.3(RB1):c.13A>T (p.Thr5Ser)	RB1 (T5S)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 860944	NM_000321.3(RB1):c.13A>G (p.Thr5Ala)	RB1 (T5A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 527924	NM_000321.3(RB1):c.13A>C (p.Thr5Pro)	RB1 (T5P)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 428670	NM_000321.3(RB1):c.19dup (p.Arg7fs)	RB1 (R7fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1073217	NM_000321.3(RB1):c.19del (p.Arg7fs)	RB1 (R7fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 653621	NM_000321.3(RB1):c.14C>T (p.Thr5Ile)	RB1 (T5I)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 2565222	NM_000321.3(RB1):c.15C>T (p.Thr5=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 819610	NM_000321.3(RB1):c.15C>A (p.Thr5=)	RB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 285560	NM_000321.3(RB1):c.16C>T (p.Pro6Ser)	RB1 (P6S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1780360	NM_000321.3(RB1):c.17C>T (p.Pro6Leu)	RB1 (P6L)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GConflicting classifications of pathogenicity
Select item 1379378	NM_000321.3(RB1):c.17C>A (p.Pro6His)	RB1 (P6H)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 1782260	NM_000321.3(RB1):c.18C>A (p.Pro6=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 706912	NM_000321.3(RB1):c.18C>T (p.Pro6=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 942011	NM_000321.3(RB1):c.19C>A (p.Arg7=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 428663	NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs)	RB1	Indel	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3236951	NM_000321.3(RB1):c.20_21insC (p.Thr9fs)	RB1 (T9fs)	Insertion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 938239	NM_000321.3(RB1):c.20G>A (p.Arg7Gln)	RB1 (R7Q)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 2726068	NM_000321.3(RB1):c.21_22insT (p.Lys8Ter)	RB1 (K8*)	Insertion (nonsense)	Retinoblastoma	GPathogenic
Select item 2585722	NM_000321.3(RB1):c.25del (p.Thr9fs)	RB1 (T9fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1081885	NM_000321.3(RB1):c.21A>G (p.Arg7=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 2107807	NM_000321.3(RB1):c.22A>G (p.Lys8Glu)	RB1 (K8E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2692726	NM_000321.3(RB1):c.24_61del (p.Lys8fs)	RB1 (K8fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 1792195	NM_000321.3(RB1):c.24A>C (p.Lys8Asn)	RB1 (K8N)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 3075638	NM_000321.3(RB1):c.25A>C (p.Thr9Pro)	RB1 (T9P)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 1047091	NM_000321.3(RB1):c.26C>G (p.Thr9Arg)	RB1 (T9R)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 1018131	NM_000321.3(RB1):c.26C>T (p.Thr9Met)	RB1 (T9M)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3313070	NM_000321.3(RB1):c.34_42dup (p.Ala14_Ala15insThrAlaAla)	RB1	Duplication (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3313053	NM_000321.3(RB1):c.28GCC[3] (p.Ala11_Thr12insAla)	RB1	Microsatellite (inframe_indel +1 more)	not provided +1 more	GUncertain significance
Select item 3236970	NM_000321.3(RB1):c.34_74del (p.Thr12fs)	RB1 (T12fs)	Deletion (frameshift variant)	Retinoblastoma +1 more	GPathogenic OLikely oncogenic
Select item 3001395	NM_000321.3(RB1):c.34_39dup (p.Ala13_Ala14insThrAla)	RB1	Duplication (inframe_insertion)	Retinoblastoma	GUncertain significance

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