ClinVar for MedGen (Select 20552) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244135	NC_000013.10:g.(?_49037857)_(49039514_?)dup	RB1	Duplication	Retinoblastoma	GPathogenic
Select item 3244134	NC_000013.10:g.(?_49027119)_(49030495_?)dup	RB1	Duplication	Retinoblastoma	GPathogenic
Select item 3244133	NC_000013.10:g.(?_48954291)_(48955599_?)dup	RB1	Duplication	Retinoblastoma	GLikely pathogenic
Select item 3244132	NC_000013.10:g.(?_48916715)_(48916870_?)dup	RB1	Duplication	Retinoblastoma	GPathogenic
Select item 3244131	NC_000013.10:g.(?_48877971)_(48878195_?)dup	RB1	Duplication	Retinoblastoma	GUncertain significance
Select item 3244130	NC_000013.10:g.(?_48934141)_(49054207_?)del	LPAR6, RB1	Deletion	Retinoblastoma	GPathogenic
Select item 3244129	NC_000013.10:g.(?_48934143)_(48941749_?)del	RB1	Deletion	Retinoblastoma	GPathogenic
Select item 3244128	NC_000013.10:g.(?_48916725)_(49054207_?)del	LPAR6, RB1	Deletion	Retinoblastoma	GPathogenic
Select item 3244126	NC_000013.10:g.(?_49037857)_(49039514_?)del	RB1	Deletion	Retinoblastoma	GPathogenic
Select item 3244125	NC_000013.10:g.(?_49030329)_(49033979_?)del	RB1	Deletion	Retinoblastoma	GPathogenic
Select item 3244124	NC_000013.10:g.(?_48941610)_(48942760_?)del	RB1	Deletion	Retinoblastoma	GPathogenic
Select item 3244123	NC_000013.10:g.(?_48878049)_(48923179_?)del	RB1	Deletion	Retinoblastoma	GPathogenic
Select item 3244122	NC_000013.10:g.(?_48517506)_(49039524_?)del	ITM2B, LPAR6 +4 more	Deletion	Retinoblastoma	GPathogenic
Select item 3244121	NC_000013.10:g.(?_48611883)_(48955589_?)del	ITM2B, MED4 +2 more	Deletion	Retinoblastoma	GPathogenic
Select item 3244120	NC_000013.10:g.(?_48877814)_(49054207_?)del	LPAR6, RB1	Deletion	Retinoblastoma	GPathogenic
Select item 3242344	NM_000321.3(RB1):c.1212del (p.Phe404fs)	RB1 (F404fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237148	NM_000321.3(RB1):c.719-3C>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GUncertain significance
Select item 3237147	NM_000321.3(RB1):c.719-39G>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GUncertain significance
Select item 3237146	NM_000321.3(RB1):c.719-9C>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GPathogenic
Select item 3237145	NM_000321.3(RB1):c.717T>G (p.Tyr239Ter)	RB1 (Y239*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237144	NM_000321.3(RB1):c.688_689del (p.Ser230fs)	RB1 (S230fs)	Microsatellite (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237143	NM_000321.3(RB1):c.678dup (p.Ile227fs)	RB1 (I227fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237142	NM_000321.3(RB1):c.626A>G (p.Glu209Gly)	RB1 (E209G)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3237141	NM_000321.3(RB1):c.608-1G>A	RB1	Single nucleotide variant (splice acceptor variant)	Retinoblastoma	GPathogenic
Select item 3237140	NM_000321.3(RB1):c.607+2T>G	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 3237139	NM_000321.3(RB1):c.607+1del	RB1	Deletion (splice donor variant)	Retinoblastoma	GPathogenic
Select item 3237138	NM_000321.3(RB1):c.602del (p.Ala201fs)	RB1 (A201fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237137	NM_000321.3(RB1):c.585G>A (p.Trp195Ter)	RB1 (W195*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237136	NM_000321.3(RB1):c.575_576del (p.Lys192fs)	RB1 (K192fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237135	NM_000321.3(RB1):c.540-1G>C	RB1	Single nucleotide variant (splice acceptor variant)	Retinoblastoma	GPathogenic
Select item 3237134	NM_000321.3(RB1):c.526C>T (p.Gln176Ter)	RB1 (Q176*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237133	NM_000321.3(RB1):c.521T>A (p.Leu174Ter)	RB1 (L174*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237132	NM_000321.3(RB1):c.501-1G>T	RB1	Single nucleotide variant (splice acceptor variant)	Retinoblastoma	GPathogenic
Select item 3237131	NM_000321.3(RB1):c.485del (p.Phe162fs)	RB1 (F162fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237130	NM_000321.3(RB1):c.469del (p.Val157fs)	RB1 (V157fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237129	NM_000321.3(RB1):c.465T>G (p.Tyr155Ter)	RB1 (Y155*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237128	NM_000321.3(RB1):c.462_464dup (p.Tyr155Ter)	RB1 (Y155*)	Duplication (nonsense)	Retinoblastoma	GPathogenic
Select item 3237127	NM_000321.3(RB1):c.442_443del (p.Met148fs)	RB1 (M148fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237126	NM_000321.3(RB1):c.396dup (p.Asn133Ter)	RB1 (N133*)	Duplication (nonsense)	Retinoblastoma	GPathogenic
Select item 3237125	NM_000321.3(RB1):c.341C>A (p.Ser114Ter)	RB1 (S114*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237124	NM_000321.3(RB1):c.338_341dup (p.Phe115fs)	RB1 (F115fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237123	NM_000321.3(RB1):c.312del (p.Phe104fs)	RB1 (F104fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237122	NM_000321.3(RB1):c.308del (p.Ile103fs)	RB1 (I103fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237121	NM_000321.3(RB1):c.289del (p.Glu97fs)	RB1 (E97fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237120	NM_000321.3(RB1):c.288_289delinsA (p.Glu97fs)	RB1 (E97fs)	Indel (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237119	NM_000321.3(RB1):c.-198_-189delinsAA	RB1	Indel	Retinoblastoma	GLikely pathogenic
Select item 3237118	NM_000321.3(RB1):c.281del (p.Lys94fs)	RB1 (K94fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237117	NM_000321.3(RB1):c.265G>T (p.Gly89Ter)	RB1 (G89*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237116	NM_000321.3(RB1):c.264+2T>C	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 3237115	NM_000321.3(RB1):c.264G>A (p.Leu88=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GPathogenic
Select item 3237114	NM_000321.3(RB1):c.235G>T (p.Glu79Ter)	RB1 (E79*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237113	NM_000321.3(RB1):c.2714-17C>G	RB1 (L906V)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GUncertain significance
Select item 3237112	NM_000321.3(RB1):c.2560_2563del (p.Asn854fs)	RB1 (N4fs +1 more)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237111	NM_000321.3(RB1):c.2543del (p.Ile848fs)	RB1 (I848fs)	Deletion (frameshift variant +1 more)	Retinoblastoma	GPathogenic
Select item 3237110	NM_000321.3(RB1):c.2538del (p.Lys847_Ile848insTer)	RB1	Deletion (frameshift variant +1 more)	Retinoblastoma	GPathogenic
Select item 3237109	NM_000321.3(RB1):c.2531del (p.Lys844fs)	RB1 (K844fs)	Deletion (frameshift variant +1 more)	Retinoblastoma	GPathogenic
Select item 3237108	NM_000321.3(RB1):c.232del (p.Trp78fs)	RB1 (W78fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237107	NM_000321.3(RB1):c.2525_2526dup (p.Glu843fs)	RB1 (E843fs)	Duplication (frameshift variant +1 more)	Retinoblastoma	GPathogenic
Select item 3237106	NM_000321.3(RB1):c.2520+1G>C	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 3237105	NM_000321.3(RB1):c.224G>A (p.Trp75Ter)	RB1 (W75*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237104	NM_000321.3(RB1):c.2507del (p.Gly836fs)	RB1 (G836fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237103	NM_000321.3(RB1):c.2490-2A>G	RB1	Single nucleotide variant (splice acceptor variant)	Retinoblastoma	GPathogenic
Select item 3237102	NM_000321.3(RB1):c.2490-28T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely pathogenic
Select item 3237101	NM_000321.3(RB1):c.2490-103_2490-35del	RB1	Deletion (intron variant)	Retinoblastoma	GUncertain significance
Select item 3237100	NM_000321.3(RB1):c.2489+1G>T	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 3237099	NM_000321.3(RB1):c.2482_2483insTTGG (p.Arg828fs)	RB1 (R828fs)	Insertion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237098	NM_000321.3(RB1):c.221_222insAG (p.Trp75fs)	RB1 (W75fs)	Insertion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237097	NM_000321.3(RB1):c.-197G>T	RB1	Single nucleotide variant	Retinoblastoma	GLikely pathogenic
Select item 3237096	NM_000321.3(RB1):c.2457dup (p.Pro820fs)	RB1 (P820fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237095	NM_000321.3(RB1):c.2457del (p.Pro820fs)	RB1 (P820fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237094	NM_000321.3(RB1):c.2431_2452dup (p.Gly818delinsGluSerIleTer)	RB1	Duplication (nonsense)	Retinoblastoma	GPathogenic
Select item 3237093	NM_000321.3(RB1):c.2426dup (p.Lys810fs)	RB1 (K810fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237092	NM_000321.3(RB1):c.2426del (p.Leu809fs)	RB1 (L809fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237091	NM_000321.3(RB1):c.219_220dup (p.Ala74fs)	RB1 (A74fs)	Microsatellite (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237090	NM_000321.3(RB1):c.2391del (p.Leu797fs)	RB1 (L797fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237089	NM_000321.3(RB1):c.2373_2374insA (p.Phe792fs)	RB1 (F792fs)	Insertion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237088	NM_000321.3(RB1):c.2371_2392dup (p.Arg798delinsGlnValSerTer)	RB1	Duplication (nonsense)	Retinoblastoma	GPathogenic
Select item 3237087	NM_000321.3(RB1):c.2339C>A (p.Ser780Ter)	RB1 (S780*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237086	NM_000321.3(RB1):c.2325+3_2325+6delinsG	RB1	Indel (intron variant)	Retinoblastoma	GUncertain significance
Select item 3237085	NM_000321.3(RB1):c.2325+1del	RB1	Deletion (splice donor variant)	Retinoblastoma	GPathogenic
Select item 3237084	NM_000321.3(RB1):c.2282dup (p.Met761fs)	RB1 (M761fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237083	NM_000321.3(RB1):c.2273C>A (p.Ser758Ter)	RB1 (S758*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237082	NM_000321.3(RB1):c.2260G>A (p.Val754Ile)	RB1 (V754I)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3237081	NM_000321.3(RB1):c.2253del (p.Ile752fs)	RB1 (I752fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237080	NM_000321.3(RB1):c.2239G>T (p.Glu747Ter)	RB1 (E747*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237079	NM_000321.3(RB1):c.166_170del (p.Asp56fs)	RB1 (D56fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237078	NM_000321.3(RB1):c.2213del (p.Thr738fs)	RB1 (T738fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237077	NM_000321.3(RB1):c.2224_2225del (p.Val742fs)	RB1 (V742fs)	Microsatellite (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237076	NM_000321.3(RB1):c.2212-1_2214del	RB1	Deletion (splice acceptor variant)	Retinoblastoma	GPathogenic
Select item 3237075	NM_000321.3(RB1):c.2199dup (p.Ala734fs)	RB1 (A734fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237074	NM_000321.3(RB1):c.2184C>A (p.Tyr728Ter)	RB1 (Y728*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237073	NM_000321.3(RB1):c.2178dup (p.Ala727fs)	RB1 (A727fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237072	NM_000321.3(RB1):c.2175_2176insT (p.Thr726fs)	RB1 (T726fs)	Insertion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237071	NM_000321.3(RB1):c.2137A>T (p.Lys713Ter)	RB1 (K713*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 3237070	NM_000321.3(RB1):c.2126_2137delinsGAACACATGTG (p.Tyr709_Lys713delinsTer)	RB1	Indel (nonsense)	Retinoblastoma	GPathogenic
Select item 3237069	NM_000321.3(RB1):c.2126_2133delinsGAACACATG (p.Tyr709_Ile711delinsTer)	RB1	Indel (nonsense)	Retinoblastoma	GPathogenic
Select item 3237068	NM_000321.3(RB1):c.2122_2123dup (p.Met708fs)	RB1 (M708fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237067	NM_000321.3(RB1):c.2119del (p.Ser707fs)	RB1 (S707fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237066	NM_000321.3(RB1):c.2113del (p.Met705fs)	RB1 (M705fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3237065	NM_000321.3(RB1):c.154dup (p.Thr52fs)	RB1 (T52fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic

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