"Ambry Genetics"[submitter] AND "RB1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13086	NM_000321.2(RB1):c.-198G>A	RB1	Single nucleotide variant	Retinoblastoma +1 more	GPathogenic
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)	Hereditary cancer-predisposing syndrome +1 more	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	GPathogenic
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 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 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 428670	NM_000321.3(RB1):c.19dup (p.Arg7fs)	RB1 (R7fs)	Duplication (frameshift variant)	Retinoblastoma +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)	Hereditary cancer-predisposing syndrome +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)	not provided +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)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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)	Hereditary cancer-predisposing syndrome +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 938239	NM_000321.3(RB1):c.20G>A (p.Arg7Gln)	RB1 (R7Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2107807	NM_000321.3(RB1):c.22A>G (p.Lys8Glu)	RB1 (K8E)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
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 1731064	NM_000321.3(RB1):c.34_51del (p.Thr12_Ala17del)	RB1	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 410933	NM_000321.3(RB1):c.34_42del (p.9TAA[1])	RB1	Deletion (inframe_deletion)	Retinoblastoma +1 more	GConflicting classifications of pathogenicity
Select item 458164	NM_000321.3(RB1):c.30C>G (p.Ala10=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 416488	NM_000321.3(RB1):c.30C>T (p.Ala10=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1731062	NM_000321.3(RB1):c.34_36dup (p.Thr12_Ala13insThr)	RB1	Duplication (inframe_insertion +1 more)	Retinoblastoma +1 more	GUncertain significance
Select item 1729952	NM_000321.3(RB1):c.32C>T (p.Ala11Val)	RB1 (A11V)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 527927	NM_000321.3(RB1):c.32C>G (p.Ala11Gly)	RB1 (A11G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 770063	NM_000321.3(RB1):c.33C>T (p.Ala11=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 580275	NM_000321.3(RB1):c.34A>T (p.Thr12Ser)	RB1 (T12S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1734064	NM_000321.3(RB1):c.36C>A (p.Thr12=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 824093	NM_000321.3(RB1):c.36C>T (p.Thr12=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 193082	NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)	RB1	Deletion (inframe_deletion)	Retinoblastoma +4 more	GBenign
Select item 1735995	NM_000321.3(RB1):c.38C>G (p.Ala13Gly)	RB1 (A13G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1736861	NM_000321.3(RB1):c.39C>T (p.Ala13=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 853363	NM_000321.3(RB1):c.45_50dup (p.Ala17_Ala18dup)	RB1	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2565214	NM_000321.3(RB1):c.45_50del (p.Ala17_Ala18del)	RB1	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2450505	NM_000321.3(RB1):c.40_41delinsCT (p.Ala14Leu)	RB1 (A14L)	Indel (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 237673	NM_000321.3(RB1):c.42C>T (p.Ala14=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +3 more	GBenign/Likely benign
Select item 1975239	NM_000321.3(RB1):c.45T>C (p.Ala15=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1747311	NM_000321.3(RB1):c.54_79dup (p.Pro27fs)	RB1 (P27fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1741817	NM_000321.3(RB1):c.45T>G (p.Ala15=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 428668	NM_000321.3(RB1):c.54_76dup (p.Pro26fs)	RB1 (P26fs)	Duplication (frameshift variant)	Retinoblastoma +1 more	GPathogenic/Likely pathogenic
Select item 167564	NM_000321.3(RB1):c.54_79del (p.Glu19fs)	RB1 (E19fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1743946	NM_000321.3(RB1):c.48C>T (p.Ala16=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 1744672	NM_000321.3(RB1):c.49G>T (p.Ala17Ser)	RB1 (A17S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 998774	NM_000321.3(RB1):c.49G>A (p.Ala17Thr)	RB1 (A17T)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 825440	NM_000321.3(RB1):c.50C>T (p.Ala17Val)	RB1 (A17V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1746016	NM_000321.3(RB1):c.51C>T (p.Ala17=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 825538	NM_000321.3(RB1):c.51C>G (p.Ala17=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 237674	NM_000321.3(RB1):c.52G>T (p.Ala18Ser)	RB1 (A18S)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GBenign
Select item 2450515	NM_000321.3(RB1):c.56_75dup (p.Pro26fs)	RB1 (P26fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1748565	NM_000321.3(RB1):c.55G>T (p.Glu19Ter)	RB1 (E19*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2565218	NM_000321.3(RB1):c.62del (p.Pro21fs)	RB1 (P21fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1750384	NM_000321.3(RB1):c.58C>T (p.Pro20Ser)	RB1 (P20S)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 135115	NM_000321.3(RB1):c.59C>T (p.Pro20Leu)	RB1 (P20L)	Single nucleotide variant (missense variant)	Retinoblastoma +3 more	GConflicting classifications of pathogenicity
Select item 1659369	NM_000321.3(RB1):c.60C>T (p.Pro20=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 1581952	NM_000321.3(RB1):c.60C>A (p.Pro20=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 796079	NM_000321.3(RB1):c.60C>G (p.Pro20=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 576223	NM_000321.3(RB1):c.62C>T (p.Pro21Leu)	RB1 (P21L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1753324	NM_000321.3(RB1):c.63G>C (p.Pro21=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1754969	NM_000321.3(RB1):c.66A>T (p.Ala22=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 827088	NM_000321.3(RB1):c.69GCC[6] (p.Pro28_Pro29dup)	RB1	Microsatellite (inframe_insertion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 486294	NM_000321.3(RB1):c.69GCC[5] (p.Pro29dup)	RB1	Microsatellite (inframe_insertion)	Retinoblastoma +1 more	GUncertain significance
Select item 416492	NM_000321.3(RB1):c.66A>G (p.Ala22=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 416491	NM_000321.3(RB1):c.66A>C (p.Ala22=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 410949	NM_000321.3(RB1):c.69GCC[3] (p.Pro29del)	RB1 (P29del)	Microsatellite (inframe_deletion)	Retinoblastoma +1 more	GConflicting classifications of pathogenicity
Select item 1756055	NM_000321.3(RB1):c.68C>G (p.Pro23Arg)	RB1 (P23R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1418753	NM_000321.3(RB1):c.68C>T (p.Pro23Leu)	RB1 (P23L)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 1571742	NM_000321.3(RB1):c.69G>C (p.Pro23=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GBenign/Likely benign
Select item 486297	NM_000321.3(RB1):c.69G>A (p.Pro23=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 1757644	NM_000321.3(RB1):c.71C>A (p.Pro24Gln)	RB1 (P24Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1037634	NM_000321.3(RB1):c.71C>T (p.Pro24Leu)	RB1 (P24L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2565215	NM_000321.3(RB1):c.72G>A (p.Pro24=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1175848	NM_000321.3(RB1):c.72G>C (p.Pro24=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 827087	NM_000321.3(RB1):c.74C>T (p.Pro25Leu)	RB1 (P25L)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 1759746	NM_000321.3(RB1):c.75G>T (p.Pro25=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1759739	NM_000321.3(RB1):c.75G>A (p.Pro25=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 527901	NM_000321.3(RB1):c.78_83dup (p.Pro28_Pro29dup)	RB1	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1760207	NM_000321.3(RB1):c.76C>T (p.Pro26Ser)	RB1 (P26S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1761134	NM_000321.3(RB1):c.78G>T (p.Pro26=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1581962	NM_000321.3(RB1):c.78G>C (p.Pro26=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +1 more	GLikely benign
Select item 1064254	NM_000321.3(RB1):c.79C>T (p.Pro27Ser)	RB1 (P27S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 943645	NM_000321.3(RB1):c.80C>G (p.Pro27Arg)	RB1 (P27R)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GConflicting classifications of pathogenicity
Select item 2450489	NM_000321.3(RB1):c.81C>T (p.Pro27=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2585751	NM_000321.3(RB1):c.82C>A (p.Pro28Thr)	RB1 (P28T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 568297	NM_000321.3(RB1):c.83C>T (p.Pro28Leu)	RB1 (P28L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 410943	NM_000321.3(RB1):c.83C>G (p.Pro28Arg)	RB1 (P28R)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GBenign/Likely benign
Select item 1763652	NM_000321.3(RB1):c.84T>A (p.Pro28=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 861822	NM_000321.3(RB1):c.86C>T (p.Pro29Leu)	RB1 (P29L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 486285	NM_000321.3(RB1):c.88G>C (p.Glu30Gln)	RB1 (E30Q)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 3231255	NM_000321.3(RB1):c.98_124dup (p.Asp41_Leu42insProGluGlnAspSerGlyProGluAsp)	RB1	Duplication (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance

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