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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 428668	NM_000321.3(RB1):c.54_76dup (p.Pro26fs)	RB1 (P26fs)	Duplication (frameshift variant)	Retinoblastoma +1 more	GPathogenic/Likely pathogenic
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 645423	NM_000321.3(RB1):c.89A>C (p.Glu30Ala)	RB1 (E30A)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GConflicting classifications of pathogenicity
Select item 1043395	NM_000321.3(RB1):c.94G>C (p.Asp32His)	RB1 (D32H)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +1 more	GUncertain significance
Select item 1054272	NM_000321.3(RB1):c.130C>G (p.Leu44Val)	RB1 (L44V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 840943	NM_000321.3(RB1):c.161A>G (p.Glu54Gly)	RB1 (E54G)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 2678289	NM_000321.3(RB1):c.164C>G (p.Pro55Arg)	RB1 (P55R)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 934822	NM_000321.3(RB1):c.175G>C (p.Ala59Pro)	RB1 (A59P)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +1 more	GUncertain significance
Select item 2678283	NM_000321.3(RB1):c.218G>C (p.Arg73Thr)	RB1 (R73T)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 410946	NM_000321.3(RB1):c.235G>C (p.Glu79Gln)	RB1 (E79Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 3240292	NM_000321.3(RB1):c.259G>T (p.Val87Leu)	RB1 (V87L)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 527903	NM_000321.3(RB1):c.263T>G (p.Leu88Trp)	RB1 (L88W)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 821651	NM_000321.3(RB1):c.266G>A (p.Gly89Glu)	RB1 (G89E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 458158	NM_000321.3(RB1):c.269G>T (p.Gly90Val)	RB1 (G90V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 664139	NM_000321.3(RB1):c.339G>A (p.Met113Ile)	RB1 (M113I)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GUncertain significance
Select item 851675	NM_000321.3(RB1):c.446C>T (p.Ser149Leu)	RB1 (S149L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1570596	NM_000321.3(RB1):c.452T>A (p.Leu151Gln)	RB1 (L151Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 574955	NM_000321.3(RB1):c.474G>C (p.Leu158Phe)	RB1 (L158F)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +3 more	GConflicting classifications of pathogenicity
Select item 575576	NM_000321.3(RB1):c.536G>T (p.Ser179Ile)	RB1 (S179I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 579207	NM_000321.3(RB1):c.539+1G>A	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma +3 more	GLikely pathogenic
Select item 2678281	NM_000321.3(RB1):c.539+4A>G	RB1	Single nucleotide variant (intron variant)	Malignant tumor of urinary bladder +1 more	GConflicting classifications of pathogenicity
Select item 458175	NM_000321.3(RB1):c.607G>T (p.Gly203Trp)	RB1 (G203W)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 419970	NM_000321.3(RB1):c.607+1G>A	RB1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 3240297	NM_000321.3(RB1):c.664G>A (p.Val222Ile)	RB1 (V222I)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 660863	NM_000321.3(RB1):c.689C>T (p.Ser230Leu)	RB1 (S230L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 458178	NM_000321.3(RB1):c.694C>T (p.Pro232Ser)	RB1 (P232S)	Single nucleotide variant (missense variant)	Retinoblastoma +3 more	GConflicting classifications of pathogenicity
Select item 458179	NM_000321.3(RB1):c.697A>G (p.Met233Val)	RB1 (M233V)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GConflicting classifications of pathogenicity
Select item 1327100	NM_000321.3(RB1):c.708A>C (p.Lys236Asn)	RB1 (K236N)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 950555	NM_000321.3(RB1):c.733C>T (p.Pro245Ser)	RB1 (P245S)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 576862	NM_000321.3(RB1):c.761G>A (p.Arg254Lys)	RB1 (R254K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 126820	NM_000321.3(RB1):c.763C>T (p.Arg255Ter)	RB1 (R255*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2678291	NM_000321.3(RB1):c.772A>G (p.Asn258Asp)	RB1 (N258D)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 3240291	NM_000321.3(RB1):c.796C>A (p.Gln266Lys)	RB1 (Q266K)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 842728	NM_000321.3(RB1):c.812C>T (p.Thr271Ile)	RB1 (T271I)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 3240289	NM_000321.3(RB1):c.887T>G (p.Phe296Cys)	RB1 (F296C)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 1443136	NM_000321.3(RB1):c.889A>T (p.Ile297Leu)	RB1 (I297L)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 639804	NM_000321.3(RB1):c.890T>C (p.Ile297Thr)	RB1 (I297T)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 2678292	NM_000321.3(RB1):c.940G>A (p.Val314Ile)	RB1 (V314I)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 577551	NM_000321.3(RB1):c.959G>T (p.Arg320Leu)	RB1 (R320L)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GUncertain significance
Select item 998346	NM_000321.3(RB1):c.963del (p.Arg320_Tyr321insTer)	RB1	Deletion (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 836253	NM_000321.3(RB1):c.964G>A (p.Glu322Lys)	RB1 (E322K)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 2678294	NM_000321.3(RB1):c.1050-11T>G	RB1	Single nucleotide variant (intron variant)	Malignant tumor of urinary bladder +1 more	GUncertain significance
Select item 658872	NM_000321.3(RB1):c.1067C>T (p.Thr356Ile)	RB1 (T356I)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 527932	NM_000321.3(RB1):c.1093G>C (p.Glu365Gln)	RB1 (E365Q)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GUncertain significance
Select item 1025503	NM_000321.3(RB1):c.1123G>C (p.Val375Leu)	RB1 (V375L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 848110	NM_000321.3(RB1):c.1128G>C (p.Arg376Ser)	RB1 (R376S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 960531	NM_000321.3(RB1):c.1160T>C (p.Met387Thr)	RB1 (M387T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 665312	NM_000321.3(RB1):c.1163T>G (p.Ile388Ser)	RB1 (I388S)	Single nucleotide variant (missense variant)	Retinoblastoma +3 more	GConflicting classifications of pathogenicity
Select item 458119	NM_000321.3(RB1):c.1174G>A (p.Ala392Thr)	RB1 (A392T)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +4 more	GUncertain significance
Select item 126832	NM_000321.3(RB1):c.1215+1G>A	RB1	Single nucleotide variant (splice donor variant)	Malignant tumor of urinary bladder +4 more	GPathogenic
Select item 527936	NM_000321.3(RB1):c.1215+3A>G	RB1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 644735	NM_000321.3(RB1):c.1215+10A>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +1 more	GUncertain significance
Select item 2726310	NM_000321.3(RB1):c.1245A>G (p.Ile415Met)	RB1 (I415M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1759592	NM_000321.3(RB1):c.1246C>A (p.Leu416Met)	RB1 (L416M)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +1 more	GUncertain significance
Select item 410926	NM_000321.3(RB1):c.1318G>A (p.Glu440Lys)	RB1 (E440K)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GConflicting classifications of pathogenicity
Select item 818972	NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter)	RB1 (Y446*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 577156	NM_000321.3(RB1):c.1364G>A (p.Arg455Gln)	RB1 (R455Q)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GUncertain significance
Select item 2678290	NM_000321.3(RB1):c.1390-3C>A	RB1	Single nucleotide variant (intron variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2678284	NM_000321.3(RB1):c.1395A>C (p.Glu465Asp)	RB1 (E465D)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 3231188	NM_000321.3(RB1):c.1408A>G (p.Ile470Val)	RB1 (I470V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 656539	NM_000321.3(RB1):c.1410T>G (p.Ile470Met)	RB1 (I470M)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GConflicting classifications of pathogenicity
Select item 3240294	NM_000321.3(RB1):c.1411C>A (p.Gln471Lys)	RB1 (Q471K)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 1496135	NM_000321.3(RB1):c.1436A>G (p.Asp479Gly)	RB1 (D479G)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 527899	NM_000321.3(RB1):c.1439A>G (p.Asn480Ser)	RB1 (N480S)	Single nucleotide variant (missense variant)	RB1-related disorder +2 more	GUncertain significance
Select item 458134	NM_000321.3(RB1):c.1672A>C (p.Met558Leu)	RB1 (M558L)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 1828	NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)	LPAR6, RB1 (G146R)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 410936	NM_000321.3(RB1):c.1736G>A (p.Arg579Gln)	RB1 (R579Q)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GConflicting classifications of pathogenicity
Select item 819952	NM_000321.3(RB1):c.1741G>A (p.Gly581Arg)	RB1 (G581R)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 852418	NM_000321.3(RB1):c.1750G>T (p.Asp584Tyr)	RB1 (D584Y)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 410944	NM_000321.3(RB1):c.1768T>G (p.Cys590Gly)	RB1 (C590G)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 571216	NM_000321.3(RB1):c.1772C>T (p.Pro591Leu)	RB1 (P591L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 820290	NM_000321.3(RB1):c.1892A>G (p.Gln631Arg)	RB1 (Q631R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 3240295	NM_000321.3(RB1):c.1894G>A (p.Ala632Thr)	RB1 (A632T)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2678285	NM_000321.3(RB1):c.1945C>G (p.Leu649Val)	RB1 (L649V)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 997573	NM_000321.3(RB1):c.1960+1G>A	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 820461	NM_000321.3(RB1):c.1982G>A (p.Arg661Gln)	RB1 (R661Q)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 820519	NM_000321.3(RB1):c.2002C>A (p.Arg668Ser)	RB1 (R668S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 3240290	NM_000321.3(RB1):c.2019C>A (p.His673Gln)	RB1 (H673Q)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2678288	NM_000321.3(RB1):c.2059A>G (p.Thr687Ala)	RB1 (T687A)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	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 428714	NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)	RB1 (R698S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1013983	NM_000321.3(RB1):c.2106+3A>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +2 more	GConflicting classifications of pathogenicity
Select item 527923	NM_000321.3(RB1):c.2221C>T (p.Arg741Cys)	RB1 (R741C)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GConflicting classifications of pathogenicity
Select item 2891136	NM_000321.3(RB1):c.2231T>G (p.Ile744Ser)	RB1 (I744S)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +1 more	GUncertain significance
Select item 3240293	NM_000321.3(RB1):c.2275G>A (p.Val759Ile)	RB1 (V759I)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 458143	NM_000321.3(RB1):c.2289A>T (p.Arg763Ser)	RB1 (R763S)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GConflicting classifications of pathogenicity
Select item 486288	NM_000321.3(RB1):c.2327C>A (p.Pro776His)	RB1 (P776H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 237669	NM_000321.3(RB1):c.2332A>G (p.Thr778Ala)	RB1 (T778A)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 834609	NM_000321.3(RB1):c.2344A>G (p.Ile782Val)	RB1 (I782V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 641763	NM_000321.3(RB1):c.2381G>C (p.Ser794Thr)	RB1 (S794T)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GUncertain significance
Select item 821268	NM_000321.3(RB1):c.2432G>A (p.Ser811Asn)	RB1 (S811N)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GConflicting classifications of pathogenicity
Select item 2678280	NM_000321.3(RB1):c.2493C>G (p.Ile831Met)	RB1 (I831M)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 486296	NM_000321.3(RB1):c.2533T>C (p.Phe845Leu)	RB1 (F845L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1060014	NM_000321.3(RB1):c.2539A>G (p.Lys847Glu)	RB1 (K847E)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +1 more	GUncertain significance
Select item 2678293	NM_000321.3(RB1):c.2594G>C (p.Gly865Ala)	RB1 (G15A +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 821572	NM_000321.3(RB1):c.2615T>C (p.Leu872Pro)	RB1 (L872P)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +3 more	GUncertain significance
Select item 657557	NM_000321.3(RB1):c.2620A>C (p.Lys874Gln)	RB1 (K874Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity

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