"RB1-related condition"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2889662	NR_046414.2(RB1-DT):n.24G>C	RB1, RB1-DT	Single nucleotide variant (non-coding transcript variant)	Retinoblastoma +1 more	GConflicting classifications of pathogenicity
Select item 2443575	NM_000321.2(RB1):c.-221_-199del23	RB1, RB1-DT	Deletion	not provided +2 more	GUncertain significance
Select item 2629143	NM_000321.3(RB1):c.-153G>C	RB1	Single nucleotide variant (5 prime UTR variant)	RB1-related condition	GUncertain significance
Select item 193082	NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)	RB1	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +4 more	GBenign
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 527919	NM_000321.3(RB1):c.109A>G (p.Ser37Gly)	RB1 (S37G)	Single nucleotide variant (missense variant)	Retinoblastoma +3 more	GConflicting classifications of pathogenicity
Select item 410930	NM_000321.3(RB1):c.113G>A (p.Gly38Asp)	RB1 (G38D)	Single nucleotide variant (missense variant)	RB1-related condition +2 more	GBenign/Likely benign
Select item 590846	NM_000321.3(RB1):c.371_372del (p.Ile124fs)	RB1 (I124fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
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 1623881	NM_000321.3(RB1):c.501-17_501-15del	RB1	Deletion (intron variant)	RB1-related condition +1 more	GLikely benign
Select item 527940	NM_000321.3(RB1):c.539C>T (p.Ser180Leu)	RB1 (S180L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1661414	NM_000321.3(RB1):c.608-4dup	RB1	Duplication (intron variant)	Retinoblastoma +2 more	GBenign/Likely benign
Select item 312284	NM_000321.3(RB1):c.608-4del	RB1	Deletion (intron variant)	RB1-related condition +4 more	GBenign/Likely benign
Select item 428665	NM_000321.3(RB1):c.735del (p.Ile246fs)	RB1 (I246fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1006053	NM_000321.3(RB1):c.739A>G (p.Asn247Asp)	RB1 (N247D)	Single nucleotide variant (missense variant)	RB1-related condition +2 more	GUncertain significance
Select item 3035042	NM_000321.3(RB1):c.861+10C>G	RB1	Single nucleotide variant (intron variant)	RB1-related condition	GLikely benign
Select item 416506	NM_000321.3(RB1):c.862-8T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +1 more	GLikely benign
Select item 428664	NM_000321.3(RB1):c.1147C>T (p.Gln383Ter)	RB1 (Q383*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2585720	NM_000321.3(RB1):c.1215+1G>C	RB1	Single nucleotide variant (splice donor variant)	RB1-related condition +1 more	GPathogenic
Select item 3041904	NM_000321.3(RB1):c.1390-18_1390-17del	RB1	Deletion (intron variant)	RB1-related condition	GLikely benign
Select item 416495	NM_000321.3(RB1):c.1410T>C (p.Ile470=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +2 more	GBenign/Likely benign
Select item 3045281	NM_000321.3(RB1):c.1421+1G>T	RB1	Single nucleotide variant (splice donor variant)	RB1-related condition	GLikely pathogenic
Select item 3046017	NM_000321.3(RB1):c.1421+19G>A	RB1	Single nucleotide variant (intron variant)	RB1-related condition	GLikely benign
Select item 527899	NM_000321.3(RB1):c.1439A>G (p.Asn480Ser)	RB1 (N480S)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GUncertain significance
Select item 486284	NM_000321.3(RB1):c.1464G>A (p.Ala488=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma +2 more	GBenign/Likely benign
Select item 416489	NM_000321.3(RB1):c.1632A>G (p.Arg544=)	RB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 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 571472	NM_000321.3(RB1):c.1988A>G (p.Asn663Ser)	RB1 (N663S)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GConflicting classifications of pathogenicity
Select item 3050456	NM_000321.3(RB1):c.2212-19_2212-16del	RB1	Deletion (intron variant)	RB1-related condition	GLikely benign
Select item 3037602	NM_000321.3(RB1):c.2212-22_2212-16del	RB1	Deletion (intron variant)	RB1-related condition	GLikely benign
Select item 167568	NM_000321.3(RB1):c.2212-16T>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +4 more	GConflicting classifications of pathogenicity
Select item 3029642	NM_000321.3(RB1):c.2212-15A>C	RB1	Single nucleotide variant (intron variant)	RB1-related condition	GLikely benign
Select item 195646	NM_000321.3(RB1):c.2212-15A>G	RB1	Single nucleotide variant (intron variant)	RB1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3044343	NM_000321.3(RB1):c.2212-14del	RB1	Deletion (intron variant)	RB1-related condition	GLikely benign
Select item 2074691	NM_000321.3(RB1):c.2212-14C>A	RB1	Single nucleotide variant (intron variant)	RB1-related condition +1 more	GLikely benign
Select item 1292752	NM_000321.3(RB1):c.2212-12G>T	RB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 727657	NM_000321.3(RB1):c.2212-9C>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +2 more	GBenign/Likely benign
Select item 3052305	NM_000321.3(RB1):c.2212-3C>A	RB1	Single nucleotide variant (intron variant)	RB1-related condition	GLikely benign
Select item 410950	NM_000321.3(RB1):c.2392C>T (p.Arg798Trp)	RB1 (R798W)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GConflicting classifications of pathogenicity
Select item 458147	NM_000321.3(RB1):c.2406G>A (p.Gly802=)	RB1	Single nucleotide variant (synonymous variant)	RB1-related condition +3 more	GLikely benign
Select item 458149	NM_000321.3(RB1):c.2455C>G (p.Leu819Val)	RB1 (L819V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 416487	NM_000321.3(RB1):c.2455C>T (p.Leu819=)	RB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3058125	NM_000321.3(RB1):c.2486C>G (p.Ser829Ter)	RB1 (S829*)	Single nucleotide variant (nonsense)	RB1-related condition	GPathogenic
Select item 2637298	NM_000321.3(RB1):c.2490-1403A>T	RB1	Single nucleotide variant (intron variant)	RB1-related condition	GUncertain significance
Select item 237670	NM_000321.3(RB1):c.2518G>A (p.Gly840Arg)	RB1 (G840R)	Single nucleotide variant (missense variant)	RB1-related condition +2 more	GConflicting classifications of pathogenicity
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 821572	NM_000321.3(RB1):c.2615T>C (p.Leu872Pro)	RB1 (L872P)	Single nucleotide variant (missense variant)	RB1-related condition +2 more	GUncertain significance

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Items: 49